ATXN3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATXN3 wild-type allele is located in the vicinity of 14q32.12 and is approximately 62 kb in length. This allele, which encodes ataxin-3 protein, is involved in the regulation of protein homeostasis, gene transcription, cytoskeletal modeling, myogenesis and degradation of misfolded chaperone substrates. The expansion of (CAG)n trinucleotide repeats in the gene from the normal 12-44 to 52-86 is associated with spinocerebellar ataxia 3 (Machado-Joseph disease).

**Synonyms:** - AT3 - ATX3 - Ataxin 3 wt Allele - JOS - Josephin Gene - MJD - MJD1 - Machado-Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar Ataxia 3, Autosomal Dominant, Ataxin 3) Gene - Olivopontocerebellar Ataxia 3 Gene - SCA3 - Spinocerebellar Ataxia 3 Gene - Spinocerebellar Ataxia Type 3 Gene