Preferred Label : PSAP wt Allele;
NCIt synonyms : SAP1; Prosaposin wt Allele; Variant Gaucher Disease and Variant Metachromatic Leukodystrophy Gene; GLBA; PARK24; SAP2; PSAPD;
NCIt 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.;
NCIt note : PSAP mutations that cause saposin-B deficiency are associated with metachromatic leukodystrophy
due to saposin B deficiency. Mutations that cause saposin-C deficiency are associated
with Gaucher disease. Mutations that cause saposin-A deficiency are associated with
Krabbe disease. Certain point mutations affecting the saposin-D region are associated
with autosomal dominant Parkinson disease type 24. Loss of function mutations, especially
mutations resulting in premature stop codons in the PSAP coding sequence, are associated
with combined saposin (SAP) deficiency. (OMIM);
GenBank Accession Number : BC004275;
Origin ID : C106440;
UMLS CUI : C3811239;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
