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

doi:10.1016/0014-5793(91)80760-z

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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...

Topics

Base Sequence
Blotting, Northern
Cells, Cultured
DNA
Exons
Female
Gaucher Disease
Glycoproteins
Humans
Molecular Sequence Data
Mutation
Phenotype
Saposins
Sphingolipid Activator Proteins

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