Premium
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease
Author(s) -
Schnabel Doris,
Schröder Maria,
Sandhoff Konrad
Publication year - 1991
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(91)80760-z
Subject(s) - activator (genetics) , sphingolipid , transversion , gaucher's disease , gene , biology , microbiology and biotechnology , lysosomal storage disease , mutation , biochemistry , enzyme , genetics , disease , medicine
The lysosomal degradation of glucosylceramide requires the hydrolase, glucosylceramide‐β‐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 G 1154 → 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 Cys 385 in the mature SAP‐2. The rest of the coding sequence remained entirely normal.