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.
Aliases： GLBA; SAP1
Entrez GeneID： 5660
Swissprot ： P07602
WB Predicted band size： 58.1kDa
Host/Isotype： Mouse IgG1
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human PSAP (AA: 325-524 ) expressed in E. Coli.
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