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Article

The role of saposin C in Gaucher disease.

Molecular genetics and metabolism - 1 Jul 2012

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

Abstract excerpt

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...

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Identifiers

PMID: 22652185
DOI: 10.1016/j.ymgme.2012.04.024
PMCID: PMC3534739

Genes

PSAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22652185-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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