External References:
Wikipedia
GeneCards
HUGO
COSMIC
Google Scholar
NCBI Description of PSAP |
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. |
Community Annotation of PSAP Add / Edit PSAP: Annotations
No community annotations yet for PSAP.
|
Figure notes
• "Mouse over" a mutation to see details. |
![]() |
Click on a tumor type to see its full list of significant genes.
Data details