title: 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.affiliation: Institut für Organische Chemie und Biochemie Bonn, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Schnabel
authors.forename: M
authors.initials: M
authors.lastname: Schröder
authors.forename: K
authors.initials: K
authors.lastname: Sandhoff
mesh_terms: D001483:Base Sequence; D015152:Blotting, Northern; D002478:Cells, Cultured; D004247:DNA; D005091:Exons; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D049231:Saposins; D049128:Sphingolipid Activator Proteins
chemical_list: D006023:Glycoproteins; C483345:PSAP protein, human; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D004247:DNA