總結(jié) |
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.
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別名 |
Prosaposin, Proactivator polypeptide, Saposin-A, Protein A, Saposin-B-Val, Saposin-B, Cerebroside sulfate activator, CSAct, Dispersin, Sphingolipid activator protein 1, SAP-1, Sulfatide/GM1 activator, Saposin-C, A1 activator, Co-beta-glucosidase, Glucosylceramidase activator, Sphingolipid activator protein 2, SAP-2, Saposin-D, Component C, Protein C, PSAP, GLBA, SAP1
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