PSAP wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PSAP wild-type allele is located within 10q21-q22 and is approximately 35 kb in length. This allele, which encodes prosaposin protein, plays a role in the positive regulation of lipid hydrolysis. Mutation of the gene is associated with combined saposin deficiency, leukodystrophy metachromatic due to saposin-B deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, due to saposin A deficiency and Tay-Sachs disease.

**Synonyms:** - GLBA - PARK24 - PSAPD - Prosaposin wt Allele - SAP1 - SAP2 - Variant Gaucher Disease and Variant Metachromatic Leukodystrophy Gene