Aliases:This biomarker is also known as:
- variant Gaucher disease and variant metachromatic leukodystrophy,
- sphingolipid activator protein-1,
- Proactivator polypeptide,
The PSAP 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.
There are no datasets associated with this biomarker.
The following organs have data associated with this biomarker…
No associated publications found.
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