Ataxin 2 Proteins

Protein Information

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. 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.

Synonyms

9630045M23Rik; ASL13; ataxin 2; ataxin-2; ATX2; Atxn2; AW544490; FLJ46772; Sca2; spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2); spinocerebellar ataxia 2 homolog; spinocerebellar ataxia type 2 protein; Spinocerebellar ataxia type 2 protein homolog; TNRC13; Trinucleotide repeat-containing gene 13 protein