Protein Summary

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. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined.

Alternative names and synonyms associated with Ataxin 2 (ATXN2)

• ataxin 2 (ATXN2) antibody
• ataxin 2 (Atxn2) antibody
• ataxin 2 L homeolog (atxn2.L) antibody

• 9630045M23Rik antibody
• ASL13 antibody
• ATX2 antibody
• ATXN2 antibody
• AW544490 antibody
• Show all synonym aliases
• MGC115230 antibody
• Sca2 antibody
• TNRC13 antibody

Protein level used designations for anti-Ataxin 2 (ATXN2) Antibodies

ataxin-2 , spinocerebellar ataxia type 2 protein , trinucleotide repeat containing 13 , trinucleotide repeat-containing gene 13 protein , spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) , spinocerebellar ataxia 2 homolog , spinocerebellar ataxia type 2 protein homolog , ataxin 2 , ataxin-2-like