SPTBN2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SPTBN2 wild-type allele is located in the vicinity of 11q13.2 and is approximately 44 kb in length. This allele, which encodes spectrin beta chain, non-erythrocytic 2 protein, is involved in the regulation of actin filament function. Mutations in this gene are associated with spinocerebellar ataxia 5.

**Synonyms:** - GTRAP41 - KIAA0302 - SCA5 - Spectrin, Beta, Non-Erythrocytic 2 wt Allele