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 contains41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1).

Ataxin 1 (phospho S775); ATXN1; ATX1; D6S504E; SCA1; Ataxin-1; Spinocerebellar ataxia type 1; ATX1_HUMAN.

Rat,Human,Mouse,Dog,Pig,Cow,Horse,Rabbit

IHC,IF,ICC

IHC 1:100-500
IF 1:100-500
ICC 1:100-1:400

90kD

6310

P54253

https://www.uniprot.org/uniprotkb/P54253

Cytoplasm. Nucleus. Note=Colocalizes with USP7 in the nucleus.

Widely expressed throughout the body.

KLH conjugated Synthesised phosphopeptide derived from human Ataxin-1 around the phosphorylation site of Ser775

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.