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ATXN1 / SCA1

ataxin 1

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene.

Gene Name: ataxin 1
Synonyms: ATXN1, ATX1, Ataxin 1, D6S504E, Ataxin-1, SCA1
Target Sequences: NM_000332 NP_000323.2 P54253

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Proteins (9)
Over-Expression Lysate (4)
Recombinant (5)
ATXN1 / SCA1 (9)
No (9)
GST, N-terminus (1)
His-T7 (2)
Myc-DDK (Flag) (6)
Human (6)
Mouse (1)
293T Cells (2)
E. coli (2)
HEK 293 Cells (4)
Wheat Germ Extract (1)
ATXN1 / SCA1 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)
86.7 kDa
100 µg/$710
ATXN1 / SCA1 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)
86.7 kDa
100 µg/$710
ATXN1 / SCA1 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
ATXN1 / SCA1 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)
86.7 kDa
20 µg/$215
ATXN1 / SCA1 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)
86.7 kDa
20 µg/$215
ATXN1 / SCA1 Protein - Purified recombinant protein ATXN1 was analyzed by SDS-PAGE gel and Coomassie Blue Staining
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HEK 293 Cells
Myc-DDK (Flag)
86.7 kDa
20 µg/$1,107
ATXN1 / SCA1 Protein - Purified recombinant protein ATXN1 was analyzed by SDS-PAGE gel and Coomassie Blue Staining
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HEK 293 Cells
Myc-DDK (Flag)
86.7 kDa
20 µg/$1,107
ATXN1 / SCA1 Protein - Recombinant Ataxin 1 By SDS-PAGE
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E. coli
His-T7
30.9 kDa
50 µg/$470; 10 µg/$285; 200 µg/$937; 100 µg/$750; 1 mg/$2,063; 500 µg/$1,594; 5 mg/$3,277; 2 mg/$2,252
ATXN1 / SCA1 Protein - Recombinant Ataxin 1 By SDS-PAGE
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E. coli
His-T7
30.1 kDa
10 µg/$279; 50 µg/$432; 100 µg/$690; 200 µg/$862; 1 mg/$1,962; 500 µg/$1,505; 5 mg/$3,011; 2 mg/$2,148
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For RESEARCH USE ONLY. Intended for use by laboratory professionals. 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).