PSAP Full-Length ORF: Human Gene Retrovirus

Gene ID: 5660

Synonym(s): GLBA, PARK24, PSAPD, SAP1, SAP2

Description: This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including 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 and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].

This ORF sequence encodes a protein that is exactly the same as the protein of NM_002778. The protein has 6 functional sites and/or regions.