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Unfortunately, the antibody LS-C219530 is no longer available.

Below is a list of antibodies to the same protein target. You may also try your search again using the search box at the top of the page. Please contact us if you have any questions.



GBA / Glucosidase Beta Acid Antibodies

glucosidase, beta, acid

Gene Name: glucosidase, beta, acid
Synonyms: GBA Antibody, Acid beta-glucosidase Antibody, Alglucerase Antibody, Beta-glucocerebrosidase Antibody, GBA1 Antibody, Glucosidase, beta, acid Antibody, GLUC Antibody, GCB Antibody, Lysosomal glucocerebrosidase Antibody, Metaxin Antibody, MTXN Antibody, Glucosylceramidase Antibody, Imiglucerase Antibody
Target Sequences: NM_000157 NP_000148.2 P04062
 GBA / Glucosidase Beta Acid Feature Table

GBA / Glucosidase Beta Acid Antibodies (30)

Target Reactivity Applications Host Isotype Clonality Clone Format Epitope Publications Type
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Unconjugated Human IHC-P, ICC, WB aa352-536 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa352-536) LS-C185394
IHC Image
ICC Image
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
IHC - Paraffin, ICC, Western blot
Unconjugated
GBA / Glucosidase Beta Acid Rabbit IgG Monoclonal EPR5143(3) Unconjugated Human, Mouse, Rat IHC-P, WB Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, clone EPR5143(3)) LS-C152539
IHC Image
IHC Image
Rabbit Monoclonal [clone EPR5143(3)] (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse, Rat
IHC - Paraffin, Western blot
Unconjugated
GBA / Glucosidase Beta Acid Rabbit Polyclonal Unconjugated Human, Mouse IHC-P, WB, Flo aa344-373 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa344-373) LS-C166403
IHC Image
Flo Image
Rabbit Polyclonal to Human GBA / Glucosidase Beta Acid
Human, Mouse
IHC - Paraffin, Western blot, Flow Cytometry
Unconjugated
GBA / Glucosidase Beta Acid Rabbit Monoclonal EPR5142 Unconjugated Human IHC-P, WB Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, clone EPR5142) LS-C138437
IHC Image
WB Image
Rabbit Monoclonal [clone EPR5142] to Human GBA / Glucosidase Beta Acid
Human
IHC - Paraffin, Western blot
Unconjugated
GBA / Glucosidase Beta Acid Rabbit Polyclonal Unconjugated Human IHC-P, WB aa65-384 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa65-384) LS-C186344
IHC Image
WB Image
Rabbit Polyclonal to Human GBA / Glucosidase Beta Acid
Human
IHC - Paraffin, Western blot
Unconjugated
GBA / Glucosidase Beta Acid Mouse IgG2a Monoclonal Unconjugated, Azide-free Human IHC-P, IF, WB, ELISA aa146-236 No
Anti-GBA / Glucosidase Beta Acid Antibody (aa146-236, Azide-free) LS-C327450
Mouse Monoclonal (IgG2a) to Human GBA / Glucosidase Beta Acid
Human
IHC - Paraffin, Immunofluorescence, Western blot, ELISA
Unconjugated, Azide-free
GBA / Glucosidase Beta Acid Mouse IgG2a,k Monoclonal 2e2 Unconjugated Human IF, WB, ELISA No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (clone 2e2) LS-C104954
IF Image
WB Image
Mouse Monoclonal [clone 2e2] (IgG2a,k) to Human GBA / Glucosidase Beta Acid
Human
Immunofluorescence, Western blot, ELISA
Unconjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Unconjugated Rat WB, ELISA aa248-508 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa248-508) LS-C294225
WB Image
Rabbit Polyclonal (IgG) to Rat GBA / Glucosidase Beta Acid
Rat
Western blot, ELISA
Unconjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Unconjugated Mouse WB, ELISA aa255-509 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa255-509) LS-C294224
WB Image
Rabbit Polyclonal (IgG) to Mouse GBA / Glucosidase Beta Acid
Mouse
Western blot, ELISA
Unconjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Unconjugated Human WB, ELISA aa334-498 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa334-498) LS-C294223
WB Image
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
Western blot, ELISA
Unconjugated
GBA / Glucosidase Beta Acid Rabbit Polyclonal Unconjugated Human, Chimpanzee, Orangutan, Gibbon, Dog, Pig WB C-Terminus No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (C-Terminus) LS-C145333
WB Image
Rabbit Polyclonal to Human GBA / Glucosidase Beta Acid
Human, Chimpanzee, Orangutan, Gibbon, Dog, Pig
Western blot
Unconjugated
GBA / Glucosidase Beta Acid Mouse IgM Monoclonal Unconjugated Human WB No Primary
Anti-GBA / Glucosidase Beta Acid Antibody LS-C157766
WB Image
Mouse Monoclonal (IgM) to Human GBA / Glucosidase Beta Acid
Human
Western blot
Unconjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Biotin Conjugated Rat WB, ELISA aa248-508 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa248-508, Biotin) LS-C298656
Rabbit Polyclonal (IgG) to Rat GBA / Glucosidase Beta Acid
Rat
Western blot, ELISA
Biotin Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Biotin Conjugated Mouse WB, ELISA aa255-509 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa255-509, Biotin) LS-C299956
Rabbit Polyclonal (IgG) to Mouse GBA / Glucosidase Beta Acid
Mouse
Western blot, ELISA
Biotin Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Biotin Conjugated Human WB, ELISA aa334-498 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa334-498, Biotin) LS-C300135
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
Western blot, ELISA
Biotin Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Biotin Conjugated Human WB, ELISA aa117-214 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa117-214, Biotin) LS-C298413
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
Western blot, ELISA
Biotin Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Unconjugated Human WB, ELISA aa117-214 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa117-214) LS-C294222
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
Western blot, ELISA
Unconjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal FITC Conjugated Mouse WB, ELISA aa255-509 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa255-509, FITC) LS-C302526
Rabbit Polyclonal (IgG) to Mouse GBA / Glucosidase Beta Acid
Mouse
Western blot, ELISA
FITC Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal FITC Conjugated Rat WB, ELISA aa248-508 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa248-508, FITC) LS-C302732
Rabbit Polyclonal (IgG) to Rat GBA / Glucosidase Beta Acid
Rat
Western blot, ELISA
FITC Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal FITC Conjugated Human WB aa117-214 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa117-214, FITC) LS-C304449
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
Western blot
FITC Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal FITC Conjugated Human WB aa334-498 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa334-498, FITC) LS-C302050
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
Western blot
FITC Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal FITC Conjugated Human, Mouse WB, ELISA Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, FITC) LS-C219464
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse
Western blot, ELISA
FITC Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal HRP Conjugated, Azide-free Human, Mouse WB, ELISA Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, Azide-free, HRP) LS-C219465
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse
Western blot, ELISA
HRP Conjugated, Azide-free
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal PE Conjugated Human, Mouse WB, ELISA Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, PE) LS-C219466
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse
Western blot, ELISA
PE Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Biotin Conjugated Human, Mouse WB, ELISA Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, Biotin) LS-C219463
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse
Western blot, ELISA
Biotin Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Unconjugated Human, Mouse WB, ELISA Internal No
Anti-GBA / Glucosidase Beta Acid Antibody (Internal) LS-C330452
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse
Western blot, ELISA
Unconjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal AP Conjugated Human, Mouse WB, ELISA Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, AP) LS-C219460
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse
Western blot, ELISA
AP Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal APC Conjugated Human, Mouse WB, ELISA Internal No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (Internal, APC) LS-C219462
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human, Mouse
Western blot, ELISA
APC Conjugated
GBA / Glucosidase Beta Acid Rabbit IgG Polyclonal Unconjugated Human WB No Primary
Anti-GBA / Glucosidase Beta Acid Antibody LS-C310464
Rabbit Polyclonal (IgG) to Human GBA / Glucosidase Beta Acid
Human
Western blot
Unconjugated
GBA / Glucosidase Beta Acid Mouse Polyclonal Unconjugated Human WB aa1-536 No Primary
Anti-GBA / Glucosidase Beta Acid Antibody (aa1-536) LS-C129222
Mouse Polyclonal to Human GBA / Glucosidase Beta Acid
Human
Western blot
Unconjugated

GBA / Glucosidase Beta Acid Feature Table


Feature Type Location Details
alternative products 1 - 536 Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=Long; IsoId=P04062-1; Sequence=Displayed; Note=Has a 39 residue signal sequence. The upstream initiation site produces two to three times as much protein as does the downstream initiation codon; Name=Short; IsoId=P04062-2; Sequence=VSP_018800; Note=Has a 19 residue signal sequence; Name=3; IsoId=P04062-3; Sequence=VSP_025216, VSP_025217, VSP_025218; Note=Produced by alternative splicing;
catalytic activity 1 - 536 D-glucosyl-N-acylsphingosine + H(2)O = D- glucose + N-acylsphingosine.
Disease 1 - 536 Defects in GBA are the cause of Gaucher disease (GD) [MIM:230800]; also known as glucocerebrosidase deficiency. GD is the most prevalent lysosomal storage disease, characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.
Disease 1 - 536 Defects in GBA are the cause of Gaucher disease type 1 (GD1) [MIM:230800]; also known as adult non-neuronopathic Gaucher disease. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
Disease 1 - 536 Defects in GBA are the cause of Gaucher disease type 2 (GD2) [MIM:230900]; also known as acute neuronopathic Gaucher disease. GD2 is the most severe form and is universally progressive and fatal. It manifests soon after birth, with death generally occurring before patients reach two years of age.
Disease 1 - 536 Defects in GBA are the cause of Gaucher disease type 3 (GD3) [MIM:231000]; also known as subacute neuronopathic Gaucher disease. GD3 has central nervous manifestations.
Disease 1 - 536 Defects in GBA are the cause of Gaucher disease type 3C (GD3C) [MIM:231005]; also known as pseudo-Gaucher disease or Gaucher-like disease.
Disease 1 - 536 Defects in GBA are the cause of perinatal lethal Gaucher disease [MIM:608013]. It is a distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
Disease 1 - 536 Defects in GBA contribute to susceptibility to Parkinson disease (PARK) [MIM:168600]. A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease
Disease 1 - 536 Perinatal lethal Gaucher disease is associated with non- immune hydrops fetalis [MIM:236750]. Hydrops fetalis is a generalized edema of the fetus with fluid accumulation in the body cavities.
enzyme regulation 1 - 536 Requires saposin-C and anionic phospholipids for activity.
interaction 1 - 536 O35114:Scarb2 (xeno); NbExp=1; IntAct=EBI-1564609, EBI-1564519;
Pharmaceutical 1 - 536 Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease.
Similarity 1 - 536 Belongs to the glycosyl hydrolase 30 family.
Subcellular Location 1 - 536 Lysosome membrane; Peripheral membrane protein; Lumenal side. Note=Interaction with saposin-C promotes membrane association.
Subunit 1 - 536 Interacts with saposin-C.
web resource 1 - 536 Name=Ceredase; Note=Clinical information on Ceredase; URL="http://www.genzyme.com/prodserv/specialty_therapeutics/ceredase/";
web resource 1 - 536 Name=Cerezyme; Note=Clinical information on Cerezyme; URL="http://www.genzyme.com/prodserv/specialty_therapeutics/cerezyme/";
web resource 1 - 536 Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GBA";
bgee 1 - 536 P04062
brenda 1 - 536 3.2.1.45
cazy 1 - 536 GH30
cleanex 1 - 536 HS_GBA
cleanex 1 - 536 HS_GC
ctd 1 - 536 2629
doi 1 - 536 10
drugbank 1 - 536 DB00053
drugbank 1 - 536 DB00088
eggnog 1 - 536 prNOG17120
embl 1 - 536 AF023268
embl 1 - 536 AK291911
embl 1 - 536 AL713999
embl 1 - 536 BC003356
embl 1 - 536 D13286
embl 1 - 536 D13287
embl 1 - 536 J03059
embl 1 - 536 K02920
embl 1 - 536 M16328
embl 1 - 536 M18916
embl 1 - 536 M18917
embl 1 - 536 M19285
embl 1 - 536 M20248
embl 1 - 536 M20282
ensembl 1 - 536 ENST00000327247
ensembl 1 - 536 ENST00000368373
ensembl 1 - 536 ENST00000402928
ensembl 1 - 536 ENST00000427500
ensembl 1 - 536 ENST00000428024
gene3d 1 - 536 G3DSA:3.20.20.80
genecards 1 - 536 GC01M155204
geneid 1 - 536 2629
genevestigator 1 - 536 P04062
germonline 1 - 536 ENSG00000177628
go 1 - 536 GO:0004348
go 1 - 536 GO:0005515
go 1 - 536 GO:0005765
go 1 - 536 GO:0005975
go 1 - 536 GO:0006665
go 1 - 536 GO:0007040
go 1 - 536 GO:0008219
go 1 - 536 GO:0043169
hgnc 1 - 536 HGNC:4177
hovergen 1 - 536 HBG002285
hpa 1 - 536 HPA006667
inparanoid 1 - 536 P04062
intact 1 - 536 P04062
interpro 1 - 536 IPR001139
interpro 1 - 536 IPR013781
interpro 1 - 536 IPR017853
ipi 1 - 536 IPI00021807
ipi 1 - 536 IPI00759616
ipi 1 - 536 IPI00940598
kegg 1 - 536 hsa:2629
medline 1 - 536 20115339
medline 1 - 536 20201378
medline 1 - 536 22660472
medline 1 - 536 85022513
medline 1 - 536 86042651
medline 1 - 536 86085859
medline 1 - 536 86149363
medline 1 - 536 88074307
medline 1 - 536 88176943
medline 1 - 536 88195776
medline 1 - 536 89122038
medline 1 - 536 90274868
medline 1 - 536 90343254
medline 1 - 536 92241881
medline 1 - 536 93162655
medline 1 - 536 94124033
medline 1 - 536 94156356
medline 1 - 536 94163182
medline 1 - 536 94357595
medline 1 - 536 94379086
medline 1 - 536 95353281
medline 1 - 536 95353289
medline 1 - 536 96271984
medline 1 - 536 96271993
medline 1 - 536 96373808
medline 1 - 536 96382740
medline 1 - 536 97044507
medline 1 - 536 97044520
medline 1 - 536 97092100
medline 1 - 536 97192182
medline 1 - 536 97215205
medline 1 - 536 97298149
medline 1 - 536 97325776
medline 1 - 536 97360189
medline 1 - 536 97425095
medline 1 - 536 97474796
medline 1 - 536 98184932
medline 1 - 536 98213117
medline 1 - 536 98213468
medline 1 - 536 98299544
medline 1 - 536 98312786
medline 1 - 536 98349965
medline 1 - 536 99097160
medline 1 - 536 99270472
medline 1 - 536 99281208
medline 1 - 536 99287149
medline 1 - 536 99374932
medline 1 - 536 99459154
mim 1 - 536 168600
mim 1 - 536 230800
mim 1 - 536 230900
mim 1 - 536 231000
mim 1 - 536 231005
mim 1 - 536 236750
mim 1 - 536 606463
mim 1 - 536 608013
mint 1 - 536 MINT-3004354
nextbio 1 - 536 10357
nmpdr 1 - 536 fig|9606.3.peg.2212
oma 1 - 536 QNEPMAV
orphanet 1 - 536 2072
orphanet 1 - 536 355
orphanet 1 - 536 77259
orphanet 1 - 536 77260
orphanet 1 - 536 77261
orphanet 1 - 536 85212
orthodb 1 - 536 EOG944P5B
panther 1 - 536 PTHR11069
pdb 1 - 536 1OGS
pdb 1 - 536 1Y7V
pdb 1 - 536 2F61
pdb 1 - 536 2J25
pdb 1 - 536 2NSX
pdb 1 - 536 2NT0
pdb 1 - 536 2NT1
pdb 1 - 536 2V3D
pdb 1 - 536 2V3E
pdb 1 - 536 2V3F
pdb 1 - 536 2WCG
pdb 1 - 536 2WKL
pdb 1 - 536 3GXD
pdb 1 - 536 3GXF
pdb 1 - 536 3GXI
pdb 1 - 536 3GXM
pdbsum 1 - 536 1OGS
pdbsum 1 - 536 1Y7V
pdbsum 1 - 536 2F61
pdbsum 1 - 536 2J25
pdbsum 1 - 536 2NSX
pdbsum 1 - 536 2NT0
pdbsum 1 - 536 2NT1
pdbsum 1 - 536 2V3D
pdbsum 1 - 536 2V3E
pdbsum 1 - 536 2V3F
pdbsum 1 - 536 2WCG
pdbsum 1 - 536 2WKL
pdbsum 1 - 536 3GXD
pdbsum 1 - 536 3GXF
pdbsum 1 - 536 3GXI
pdbsum 1 - 536 3GXM
pfam 1 - 536 PF02055
pharmgkb 1 - 536 PA28591
phosphosite 1 - 536 P04062
phylomedb 1 - 536 P04062
pir 1 - 536 A94068
pir 1 - 536 I52980
pir 1 - 536 I67792
pride 1 - 536 P04062
prints 1 - 536 PR00843
proteinmodelportal 1 - 536 P04062
pubmed 1 - 536 10206680
pubmed 1 - 536 10340647
pubmed 1 - 536 10352942
pubmed 1 - 536 10360404
pubmed 1 - 536 10447266
pubmed 1 - 536 10527671
pubmed 1 - 536 10649495
pubmed 1 - 536 10744424
pubmed 1 - 536 10781797
pubmed 1 - 536 10796875
pubmed 1 - 536 11933202
pubmed 1 - 536 11992489
pubmed 1 - 536 12204005
pubmed 1 - 536 12754519
pubmed 1 - 536 12792654
pubmed 1 - 536 12847165
pubmed 1 - 536 14702039
pubmed 1 - 536 15292921
pubmed 1 - 536 15489334
pubmed 1 - 536 15605411
pubmed 1 - 536 1572652
pubmed 1 - 536 15817452
pubmed 1 - 536 15826241
pubmed 1 - 536 16148263
pubmed 1 - 536 16293621
pubmed 1 - 536 16710414
pubmed 1 - 536 17139081
pubmed 1 - 536 17187079
pubmed 1 - 536 17620502
pubmed 1 - 536 18332251
pubmed 1 - 536 19159218
pubmed 1 - 536 19286695
pubmed 1 - 536 1972019
pubmed 1 - 536 1974409
pubmed 1 - 536 19846850
pubmed 1 - 536 2914709
pubmed 1 - 536 3001061
pubmed 1 - 536 3353383
pubmed 1 - 536 3359914
pubmed 1 - 536 3456607
pubmed 1 - 536 3687939
pubmed 1 - 536 3864160
pubmed 1 - 536 6091633
pubmed 1 - 536 7627184
pubmed 1 - 536 7627192
pubmed 1 - 536 7908905
pubmed 1 - 536 7916532
pubmed 1 - 536 8076951
pubmed 1 - 536 8112750
pubmed 1 - 536 8118460
pubmed 1 - 536 8294033
pubmed 1 - 536 8432537
pubmed 1 - 536 8780099
pubmed 1 - 536 8790604
pubmed 1 - 536 8829654
pubmed 1 - 536 8829663
pubmed 1 - 536 8889578
pubmed 1 - 536 8889591
pubmed 1 - 536 8937765
pubmed 1 - 536 9040001
pubmed 1 - 536 9061570
pubmed 1 - 536 9153297
pubmed 1 - 536 9182788
pubmed 1 - 536 9217217
pubmed 1 - 536 9279145
pubmed 1 - 536 9331372
pubmed 1 - 536 9516376
pubmed 1 - 536 9554454
pubmed 1 - 536 9554746
pubmed 1 - 536 9637431
pubmed 1 - 536 9650766
pubmed 1 - 536 9683600
pubmed 1 - 536 9851895
refseq 1 - 536 NP_000148.2
refseq 1 - 536 NP_001005741.1
refseq 1 - 536 NP_001005742.1
string 1 - 536 P04062
supfam 1 - 536 SSF51445
ucsc 1 - 536 uc001fjh.1
unigene 1 - 536 Hs.282997
unigene 1 - 536 Hs.719930
alt_seq; genomic_dna 1 - 536 AAA35878.1
alt_seq; genomic_dna 1 - 536 AAA35879.1
act_site 274 - 274 Proton donor
act_site 379 - 379 Nucleophile
carbohyd 58 - 58 N-linked (GlcNAc...)
carbohyd 98 - 98 N-linked (GlcNAc...)
carbohyd 185 - 185 N-linked (GlcNAc...)
carbohyd 309 - 309 N-linked (GlcNAc...)
carbohyd 501 - 501 N-linked (GlcNAc...) (Potential)
chain 40 - 536 Glucosylceramidase /FTId=PRO_0000012177.
conflict 227 - 227 N -> R (in Ref. 5; BAA02546)
conflict 470 - 470 S -> I (in Ref. 15; AA sequence)
conflict 534 - 534 R -> H (in Ref. 1; AAA35873)
mutagen 43 - 43 C->S: Loss of activity
mutagen 57 - 57 C->S: Loss of activity
mutagen 62 - 62 C->S: Loss of activity
mutagen 379 - 379 E->G: Decreases activity 1000-fold
signal 1 - 39 In isoform Long
signal 21 - 39 In isoform Short
var_seq 1 - 20 Missing (in isoform Short) /FTId=VSP_018800.
var_seq 1 - 161 Missing (in isoform 3) /FTId=VSP_025216.
var_seq 422 - 423 LA -> PS (in isoform 3) /FTId=VSP_025217.
var_seq 425 - 536 Missing (in isoform 3) /FTId=VSP_025218.
variant 46 - 46 K -> E (in a patient with Parkinson disease). /FTId=VAR_063066.
variant 54 - 54 V -> L (in GD) /FTId=VAR_003255.
variant 55 - 55 C -> S (in GD; neuronopathic and perinatal lethal forms; loss of activity). /FTId=VAR_032394.
variant 63 - 63 D -> N (in GD; type 1; very low activity). /FTId=VAR_032395.
variant 76 - 76 F -> V (in GD) /FTId=VAR_003256.
variant 80 - 80 E -> K (in GD; type 2; dbSNP:rs1141808) /FTId=VAR_009033.
variant 82 - 82 T -> I (in GD) /FTId=VAR_003257.
variant 85 - 85 G -> E (in GD) /FTId=VAR_003258.
variant 87 - 87 R -> Q (in GD; 20% of normal activity) /FTId=VAR_032197.
variant 87 - 87 R -> W (in GD; mild; dbSNP:rs1141814) /FTId=VAR_003259.
variant 92 - 92 M -> T (in dbSNP:rs3205619) /FTId=VAR_032396.
variant 118 - 118 K -> N (in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_003260.
variant 129 - 129 A -> T (in GD) /FTId=VAR_032397.
variant 146 - 146 S -> L (in GD; type 2) /FTId=VAR_009034.
variant 152 - 152 G -> E (in GD) /FTId=VAR_003261.
variant 156 - 156 N -> D (in GD) /FTId=VAR_032398.
variant 158 - 158 I -> S (in GD; type 1; very low activity). /FTId=VAR_032399.
variant 158 - 158 I -> T (in GD) /FTId=VAR_003262.
variant 159 - 159 R -> Q (in GD; type 2; 13% of normal activity). /FTId=VAR_003263.
variant 159 - 159 R -> W (in GD; severe) /FTId=VAR_003264.
variant 161 - 161 P -> L (in GD; 16% of normal activity) /FTId=VAR_032198.
variant 161 - 161 P -> S (in GD; mild) /FTId=VAR_003265.
variant 162 - 162 M -> V (in GD; loss of activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032199.
variant 166 - 166 D -> V (in GD; 9% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032200.
variant 170 - 170 R -> C (in GD; type 1 and type 2; also found in a patient with Parkinson disease). /FTId=VAR_009035.
variant 170 - 170 R -> L (in GD) /FTId=VAR_009036.
variant 173 - 173 T -> I (in GD) /FTId=VAR_032400.
variant 173 - 173 T -> P (in GD) /FTId=VAR_003266.
variant 175 - 175 A -> E (in GD) /FTId=VAR_032401.
variant 179 - 179 D -> H (in GD) /FTId=VAR_003267.
variant 196 - 196 K -> Q (in GD; severe) /FTId=VAR_003268.
variant 198 - 198 P -> L (in GD) /FTId=VAR_009037.
variant 198 - 198 P -> T (in GD) /FTId=VAR_032402.
variant 200 - 200 I -> N (in GD; 5% of normal activity) /FTId=VAR_032201.
variant 200 - 200 I -> S (in GD) /FTId=VAR_010059.
variant 201 - 201 H -> P (in GD) /FTId=VAR_032403.
variant 209 - 209 R -> C (in GD) /FTId=VAR_032404.
variant 209 - 209 R -> P (in GD) /FTId=VAR_003269.
variant 213 - 213 L -> F (in GD; 12% of normal activity) /FTId=VAR_032202.
variant 215 - 215 A -> D (in GD) /FTId=VAR_003270.
variant 217 - 217 P -> S (in GD; type 2) /FTId=VAR_003271.
variant 221 - 221 P -> L (in GD; type 1; very low activity). /FTId=VAR_032405.
variant 221 - 221 P -> T (in GD) /FTId=VAR_003272.
variant 223 - 223 W -> R (in GD; gene conversion) /FTId=VAR_003273.
variant 224 - 224 L -> F (in GD; 4% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032203.
variant 227 - 227 N -> K (in GD; gene conversion; dbSNP:rs381418). /FTId=VAR_003275.
variant 227 - 227 N -> S (in GD; type 2; dbSNP:rs364897) /FTId=VAR_003274.
variant 228 - 228 G -> V (in GD) /FTId=VAR_010060.
variant 229 - 229 A -> E (in GD; type 2) /FTId=VAR_009038.
variant 229 - 229 A -> T (in GD) /FTId=VAR_032406.
variant 230 - 230 V -> E (in GD; type 1; very low activity). /FTId=VAR_032407.
variant 230 - 230 V -> G (in GD; mild; gene conversion; dbSNP:rs381427). /FTId=VAR_003276.
variant 232 - 232 G -> E (in GD; also found in a patient with Parkinson disease; 7% of normal activity). /FTId=VAR_032204.
variant 234 - 234 G -> E (in GD; severe) /FTId=VAR_003277.
variant 234 - 234 G -> W (in GD) /FTId=VAR_009039.
variant 235 - 235 S -> P (in GD; type 2; gene conversion; dbSNP:rs1064644). /FTId=VAR_003278.
variant 237 - 237 K -> E (in GD; severe; loss of activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032205.
variant 241 - 241 G -> E (in GD) /FTId=VAR_010061.
variant 241 - 241 G -> R (in GD; type 1 and type 2; gene conversion). /FTId=VAR_003279.
variant 244 - 244 Y -> C (in GD) /FTId=VAR_010062.
variant 251 - 251 Y -> H (in GD) /FTId=VAR_003280.
variant 252 - 252 F -> I (in GD; type 2; gene conversion; dbSNP:rs381737). /FTId=VAR_003281.
variant 255 - 255 F -> Y (in GD; mild) /FTId=VAR_003282.
variant 270 - 270 T -> R (in GD) /FTId=VAR_032408.
variant 276 - 276 S -> P (in GD) /FTId=VAR_003283.
variant 290 - 290 F -> L (in GD; perinatal lethal form) /FTId=VAR_032409.
variant 294 - 294 H -> Q (in GD; type 1 and type 2) /FTId=VAR_009040.
variant 296 - 296 R -> Q (in GD; type 2; also found in a patient with Parkinson disease). /FTId=VAR_003284.
variant 298 - 298 F -> L (in GD; type 2; 4% of normal activity). /FTId=VAR_009041.
variant 303 - 303 L -> I (in GD; 5% of normal activity) /FTId=VAR_032206.
variant 304 - 304 G -> D (in GD) /FTId=VAR_010063.
variant 305 - 305 P -> R (in GD; mild) /FTId=VAR_003285.
variant 310 - 310 S -> G (in dbSNP:rs1057942) /FTId=VAR_032410.
variant 310 - 310 S -> N (in GD; less than 5% of normal activity). /FTId=VAR_010064.
variant 324 - 324 R -> C (in GD; type 1) /FTId=VAR_003286.
variant 324 - 324 R -> H (in GD; type 2) /FTId=VAR_009042.
variant 328 - 328 P -> L (in GD; mild) /FTId=VAR_003287.
variant 342 - 342 K -> I (in GD) /FTId=VAR_003288.
variant 343 - 343 Y -> C (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_009043.
variant 348 - 348 A -> V (in GD) /FTId=VAR_003289.
variant 350 - 350 H -> R (in perinatal lethal GD) /FTId=VAR_009044.
variant 351 - 351 W -> C (in GD; mild) /FTId=VAR_003290.
variant 352 - 352 Y -> H (in GD) /FTId=VAR_003291.
variant 354 - 354 D -> H (in GD) /FTId=VAR_003292.
variant 357 - 357 A -> D (in GD) /FTId=VAR_003293.
variant 362 - 362 T -> I (in GD; 6% of normal activity) /FTId=VAR_003294.
variant 363 - 363 L -> P (in GD) /FTId=VAR_003295.
variant 364 - 364 G -> R (in GD; type 2) /FTId=VAR_003296.
variant 365 - 365 E -> K (in GD; mild; 42% of normal activity; dbSNP:rs2230288). /FTId=VAR_003297.
variant 368 - 368 R -> H (in dbSNP:rs1064648) /FTId=VAR_032411.
variant 380 - 380 A -> T (in GD) /FTId=VAR_009045.
variant 381 - 381 C -> G (in GD; type 2; loss of activity) /FTId=VAR_003298.
variant 388 - 388 E -> K (in GD; 12% of normal activity) /FTId=VAR_032207.
variant 391 - 391 V -> L (in GD) /FTId=VAR_010065.
variant 392 - 392 R -> G (in GD) /FTId=VAR_010066.
variant 392 - 392 R -> W (in GD; 5% of normal activity) /FTId=VAR_032208.
variant 398 - 398 R -> Q (in GD; mild) /FTId=VAR_003299.
variant 400 - 400 M -> I (in GD) /FTId=VAR_032412.
variant 402 - 402 Y -> C (in GD; 8% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032209.
variant 403 - 403 S -> T (in GD; mild) /FTId=VAR_003300.
variant 405 - 405 S -> G (in GD) /FTId=VAR_010067.
variant 405 - 405 S -> N (in GD) /FTId=VAR_009046.
variant 408 - 408 T -> M (in GD; dbSNP:rs2230289) /FTId=VAR_003301.
variant 409 - 409 N -> S (in GD; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C and membranes and thereby reduces enzyme activity; mild). /FTId=VAR_003302.
variant 410 - 410 L -> V (in GD; 15% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032210.
variant 414 - 414 V -> L (in GD; mild) /FTId=VAR_010068.
variant 416 - 416 G -> S (in GD; mild) /FTId=VAR_003303.
variant 417 - 417 W -> G (in GD) /FTId=VAR_003304.
variant 419 - 419 D -> A (in GD; type 2; also found in a patient with Parkinson disease). /FTId=VAR_003305.
variant 419 - 419 D -> H (in GD; 4% of normal activity) /FTId=VAR_032211.
variant 419 - 419 D -> N (in GD) /FTId=VAR_003306.
variant 421 - 421 N -> K (in GD; 22% of normal activity) /FTId=VAR_032212.
variant 426 - 426 P -> L (in GD) /FTId=VAR_010069.
variant 428 - 428 G -> E (in GD; type 2) /FTId=VAR_003307.
variant 429 - 429 G -> R (in GD; 17% of normal activity) /FTId=VAR_032213.
variant 430 - 430 P -> L (in GD) /FTId=VAR_003308.
variant 431 - 431 N -> I (in GD; type 2) /FTId=VAR_003309.
variant 432 - 432 W -> R (in GD) /FTId=VAR_009047.
variant 433 - 433 V -> L (in GD; severe; 12% of normal activity). /FTId=VAR_003310.
variant 435 - 435 N -> T (in GD; mild) /FTId=VAR_003311.
variant 436 - 436 F -> S (in GD; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation). /FTId=VAR_032214.
variant 437 - 437 V -> F (in perinatal lethal GD) /FTId=VAR_009048.
variant 437 - 437 V -> L (in GD; type 3) /FTId=VAR_010070.
variant 438 - 438 D -> N (in GD; type 1 and type 2; 14% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_003312.
variant 438 - 438 D -> Y (in GD) /FTId=VAR_032413.
variant 440 - 440 P -> L (in GD) /FTId=VAR_010071.
variant 441 - 441 I -> F (in GD; type 3) /FTId=VAR_032414.
variant 441 - 441 I -> T (in GD; mild) /FTId=VAR_010072.
variant 448 - 448 D -> H (in GD; type 1 and type neuronopathic; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low activity; alters protein stability; dbSNP:rs1064651). /FTId=VAR_003313.
variant 448 - 448 D -> V (in GD; severe; very low activity; alters protein stability). /FTId=VAR_003314.
variant 450 - 450 F -> I (in GD) /FTId=VAR_010073.
variant 451 - 451 Y -> H (in GD) /FTId=VAR_003315.
variant 452 - 452 K -> Q (in GD) /FTId=VAR_010074.
variant 454 - 454 P -> R (in GD; type 2) /FTId=VAR_003316.
variant 455 - 455 M -> V (in GD; loss of activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032215.
variant 456 - 456 F -> V (in GD) /FTId=VAR_003317.
variant 457 - 457 Y -> C (in GD) /FTId=VAR_003318.
variant 460 - 460 G -> D (in GD; type 1; associated with R- 490; loss of activity). /FTId=VAR_032415.
variant 464 - 464 K -> E (in GD; severe) /FTId=VAR_003319.
variant 482 - 482 D -> N (in a patient with Parkinson disease). /FTId=VAR_063067.
variant 483 - 483 L -> P (in GD; type 1 and type 2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability). /FTId=VAR_003321.
variant 483 - 483 L -> R (in GD; severe) /FTId=VAR_003320.
variant 485 - 485 A -> P (in GD) /FTId=VAR_003322.
variant 490 - 490 H -> R (in GD; type 1; associated with D- 460). /FTId=VAR_032416.
variant 495 - 495 A -> P (in GD; gene conversion; dbSNP:rs368060). /FTId=VAR_003323.
variant 497 - 497 V -> L /FTId=VAR_063068.
variant 500 - 500 L -> P (in GD; 10% of normal activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032216.
variant 501 - 501 N -> K (in GD; type 2) /FTId=VAR_009049.
variant 502 - 502 R -> C (in GD; 37% of normal activity; also found in patients with Parkinson disease). /FTId=VAR_003324.
variant 502 - 502 R -> P (in GD; loss of activity; increases susceptibility to proteolytic degradation). /FTId=VAR_032217.
variant 509 - 509 L -> P /FTId=VAR_003325.
variant 513 - 513 D -> Y (in GD; type 2) /FTId=VAR_009050.
variant 517 - 517 G -> S (in GD) /FTId=VAR_003326.
variant 530 - 530 T -> I (in GD; type 3; severe) /FTId=VAR_010075.
variant 535 - 535 R -> C (in GD; mild) /FTId=VAR_003327.
variant 535 - 535 R -> H (in GD; mild) /FTId=VAR_003328.
keyword 1 - 536 3D-structure
keyword 1 - 536 Alternative initiation
keyword 1 - 536 Alternative splicing
keyword 1 - 536 Complete proteome
keyword 1 - 536 Direct protein sequencing
keyword 1 - 536 Disease mutation
keyword 1 - 536 Disulfide bond
keyword 1 - 536 Gaucher disease
keyword 1 - 536 Glycoprotein
keyword 1 - 536 Glycosidase
keyword 1 - 536 Hydrolase
keyword 1 - 536 Ichthyosis
keyword 1 - 536 Lipid metabolism
keyword 1 - 536 Lysosome
keyword 1 - 536 Membrane
keyword 1 - 536 Neurodegeneration
keyword 1 - 536 Parkinson disease
keyword 1 - 536 Pharmaceutical
keyword 1 - 536 Polymorphism
keyword 1 - 536 Signal
keyword 1 - 536 Sphingolipid metabolism
Molecular Weight 1 - 536 59716
1 hit 1 - 536 PF02055

If you do not find the reagent or information you require, please contact customer.support@lsbio.com to inquire about additional products in development.

PLEASE NOTE

For RESEARCH USE ONLY. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).


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