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Article

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Human molecular genetics - 1 Nov 2014

Motta Marialetizia, Camerini Serena, Tatti Massimo, Casella Marialuisa, Torreri Paola, Crescenzi Marco, Tartaglia Marco, Salvioli Rosa

Abstract excerpt

Saposin (Sap) C is an essential cofactor for the lysosomal degradation of glucosylceramide (GC) by glucosylceramidase (GCase) and its functional impairment underlies a rare variant form of Gaucher disease (GD). Sap C promotes rearrangement of lipid organization in lysosomal membranes favoring substrate accessibility to GCase. It is characterized by six invariantly conserved cysteine residues involved in three...

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Identifiers

PMID: 24925315
DOI: 10.1093/hmg/ddu299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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