|Western Blot (WB)||1:500-1:1000|
|Tested Species reactivity||Human, Mouse|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Peptide sequence around phosphorylation site of Serine 776 (R-W-S(p)-A-P) derived from Human Ataxin 1|
|Storage buffer||PBS, pH 7.4, with 50% glycerol|
|Contains||0.02% sodium azide|
A suggested positive control for Western blot is HepG2 cells.
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.
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Protein Aliases: alternative ataxin1; Ataxin-1; ATX1; ATXN1; D6S504E; SCA1; spinocerebellar ataxia 1 homolog; Spinocerebellar ataxia type 1 protein; Spinocerebellar ataxia type 1 protein homolog
Gene Aliases: 2900016G23Rik; ATX1; ATXN1; C85907; D6S504E; ENSMUSG00000074917; Gm10786; SCA1
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