Preferred Label : SACS wt Allele;
NCIt synonyms : ARSACS; Protein Phosphatase 1, Regulatory Subunit 138 Gene; DNAJC29; Sacsin Molecular Chaperone wt Allele; Spastic Ataxia of Charlevoix-Saguenay (Sacsin) Gene; KIAA0730; SPAX6; PPP1R138; DKFZp686B15167;
NCIt 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.;
NCI Metathesaurus CUI : CL1927439;
GenBank Accession Number : AF193556;
Origin ID : C204963;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
