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Saposin C is one of four homologous proteins derived from sequential cleavage of the saposin precursor protein, prosaposin. It is an essential activator for glucocerebrosidase, the enzyme deficient in Gaucher disease. Gaucher disease is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA gene that exhibits vast phenotypic heterogeneity, despite its designation as a simple Mendelian disorder. The observed phenotypic variability has led to a search for disease modifiers that can alter the Gaucher phenotype. The PSAP gene encoding saposin C is a prime candidate modifier for Gaucher disease.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: prosaposin (sulfated glycoprotein, sphingolipid hydrolase activator); Psap; snoRNA MBII-198; sphingolipid activator protein; sulfated glycoprotein 1; sulfated glycoprotein precursor; Uncharacterized protein; unnamed protein product
基因别名: SGP-1; SGP1A
UniProt ID: (Mouse) Q61207, (Rat) P10960
Entrez Gene ID: (Mouse) 19156, (Rat) 25524