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

FEBS Letters

Schröder, Maria¹  Sandhoff, Konrad¹  Schnabel, Doris¹ 

[1] Institut für Organische Chemie und Biochemie Bonn, D-5300 Bonn 1, Germany

关键词: SAP-2 deficiency;    Gaucher disease;    SAP;    sphingolipid activator protei;    PCR;    polymerase chain reaction;    Glucosyl-ceramide-β-glucosidase;    β-d-glucosyl-N-acylsphingosine glucohydrolase (EC 3.2.1.45);   

DOI  :  10.1016/0014-5793(91)80760-Z

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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 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.

【 授权许可】

Unknown