ATXN3

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]

Description

ataxin 3

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

14:q32.12 (92038652 - 92106621)

Ensembl ID

ENSG00000066427  (ver. 84.38)

Orthologs

Mouse Atxn3: ENSMUSG00000021189

UniProt

P54252

neXtProt

NX_P54252

Human splice variants
Mouse splice variants