The role of saposin C in Gaucher disease

Rafael J. Tamargo, Arash Velayati, Ehud Goldin, Ellen Sidransky

Research output: Contribution to journalReview articlepeer-review

67 Scopus citations


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. In humans, saposin C deficiency due to mutations in PSAP results in a Gaucher-like phenotype, despite normal in vitro glucocerebrosidase activity. Saposin C deficiency has also been shown to modify phenotype in one mouse model of Gaucher disease. The role of saposin C as an activator required for normal glucocerebrosidase function, and the consequences of saposin C deficiency are described, and are being explored as potential modifying factors in patients with Gaucher disease.

Original languageEnglish (US)
Pages (from-to)257-263
Number of pages7
JournalMolecular genetics and metabolism
Issue number3
StatePublished - Jul 2012
Externally publishedYes


  • Activator
  • Glucocerebrosidase
  • Lysosomal storage disorder
  • Modifier
  • Prosaposin

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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