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Article

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.

FEBS letters - 17 Jun 1991

Schnabel D, Schröder M, Sandhoff K

Abstract excerpt

The lysosomal degradation of glucosylceramide requires the hydrolase, glucosylceramide-beta-glucosidase and a sphingolipid activator protein (Gaucher factor, SAP-2, saposin C). Genetic defects in either of these lysosomal proteins cause phenotypically similar disorders in man, the Gaucher disease. SAP-2 originates from a gene which generates a mRNA that codes for four homologous proteins. In a patient with an...

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Identifiers

PMID: 2060627
DOI: 10.1016/0014-5793(91)80760-z

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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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Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.PMID 2060627Read ↗

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