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]

The Prosaposin gene, located on the long arm of chromosome 10, is 35 kb long.  Its coding sequence consists of 15 exons.  The protein encoded by the PSAP gene is made up of 524 amino acids and is about 58 kDa in size.  So far, about seven mutations in PSAP (most of them being homozygous, single nucleotide substitutions) have been associated with metachromatic leukodystrophy.  The mutation C241S has been reported in several Arab metachromatic leukodystrophy patients.