基因名:
PSAP
产品别名:
GLBA; PARK24; PSAPD; SAP1; SAP2; PSAP; prosaposin; prosaposin; prosaposin; proactivator polypeptide; saposin-A; saposin-B; saposin-C; saposin-D; sphingolipid activator protein-1; sphingolipid activator protein-2; 鞘脂激活蛋白原; 鞘脂激活蛋白原(PSAP);
背景信息:
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. [provided by RefSeq, Jul 2008]