SACS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SACS wild-type allele is located in the vicinity of 13q12.12 and is approximately 145 kb in length. This allele, which encodes sacsin protein, is involved in the regulation of Hsp70 chaperone activity. Mutations in the gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

**Synonyms:** - ARSACS - DKFZp686B15167 - DNAJC29 - KIAA0730 - PPP1R138 - Protein Phosphatase 1, Regulatory Subunit 138 Gene - SPAX6 - Sacsin Molecular Chaperone wt Allele - Spastic Ataxia of Charlevoix-Saguenay (Sacsin) Gene