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

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.

• Authors: D Schnabel, M Schröder, K Sandhoff
• Journal: FEBS letters (FEBS Lett) Vol. 284 Issue 1 Pg. 57-9 (Jun 17 1991) ISSN: 0014-5793 [Print] England
• PMID: 2060627 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glycoproteins
• PSAP protein, human
• Saposins
• Sphingolipid Activator Proteins
• DNA

Topics

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