ATXN7 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATXN7 wild-type allele is located in the vicinity of 3p14.1 and is approximately 140 kb in length. This allele, which encodes ataxin-7 protein, plays a role in the positive regulation of gene transcription through histone acetylation and chromatin remodeling. The expansion of (CAG)n trinucleotide repeats in the gene from the normal 7-17 to 38-130 is associated with spinocerebellar ataxia 7.

**Synonyms:** - ADCAII - Ataxin 7 wt Allele - Autosomal Dominant Cerebellar Ataxia with Retinal Degeneration Gene - OPCA3 - SAGA Associated Factor 73 kDa Homolog (S. cerevisiae) Gene - SAGA Associated Factor 73 kDa Homolog Gene - SCA7 - SGF73 - Spinocerebellar Ataxia 7 (Olivopontocerebellar Atrophy with Retinal Degeneration) Gene