Entrez gene ID | | 5660 |
Official gene symbol | | PSAP |
Full name | | prosaposin |
Aliases | | ,FLJ00245,GLBA,MGC110993,SAP1, |
Gene summary | | This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q21-q22 |
Gene position | | 73611082 - 73576055 Map Viewer |
Gene orientation | | minus |
Gene size | | 35028 bp |
Gene sequence |
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OMIM ID | | 176801 |
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