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Description
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.
Immunogen
Purified recombinant fragment of human PSAP (AA: 325-524) expressed in E. Coli.
Other Names
flj00245; glba; mgc110993; prosaposin; prosaposin (variant gaucher disease and variant metachromatic leukodystrophy); prosaposin (variant gaucher disease and variant metachromatic leukodystrophy) variant; prosaposin isoform a preproprotein; prosaposin iso; SAP1; PSAP