Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
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Schnabel D, Schroder M, Sandhoff K
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
FEBS Lett. 1991 Jun 17;284(1):57-9.
- PubMed ID
- 2060627 [ View in PubMed]
- Abstract
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 immunologically proven SAP-2 deficiency a G1154----T transversion (counted from A of the initiation codon ATG) was found in the mRNA of the SAP-2 precursor which results in the substitution of Phe for Cys385 in the mature SAP-2. The rest of the coding sequence remained entirely normal.