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EPM2A / Laforin

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

Has both dual-specificity protein phosphatase and glucan phosphatase activities. Together with the E3 ubiquitin ligase NHLRC1/malin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. Dephosphorylates phosphotyrosine, phosphoserine and phosphothreonine substrates in vitro. Has also been shown to dephosphorylate MAPT. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator for the phosphatase activity of isoform 1.

Gene Name: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Family/Subfamily: Protein Phosphatase , Laforin
Synonyms: EPM2A, EPM2, LAFPTPase, LDE, Lafora PTPase, MELF, Laforin, LD
Target Sequences: NM_005670 NP_005661.1 O95278

Publications (1)

1
Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion. James K Chambers, Atigan Thongtharb, Takanori Shiga, Daigo Azakami, Miyoko Saito, Masumi Sato, Motoji Morozumi, Hiroyuki Nakayama, Kazuyuki Uchida. Veterinary pathology. 2018 Jul;55:543-551. [Full Text Article] [PubMed:29444631] Related Antibodies: LS-B6474.

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Proteins (4)
Over-Expression Lysate (2)
Recombinant (2)
EPM2A / Laforin (4)
No (4)
GST (1)
GST, N-terminus (1)
Myc-DDK (Flag) (2)
Human (3)
293T Cells (1)
HEK 293 Cells (1)
Wheat Germ Extract (2)
Purified (1)
EPM2A / Laforin Protein - 12.5% SDS-PAGE Stained with Coomassie Blue.
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Wheat Germ Extract
GST, N-terminus
10 µg/$479; 25 µg/$670
EPM2A / Laforin Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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293T Cells
Myc-DDK (Flag)
37 kDa
20 µg/$150
EPM2A / Laforin Protein - 12.5% SDS-PAGE of human EPM2A stained with Coomassie Blue
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Wheat Germ Extract
GST
63.6 kDa
10 µg/$479; 25 µg/$670
EPM2A / Laforin Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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HEK 293 Cells
Myc-DDK (Flag)
37 kDa
100 µg/$494
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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).