title: Mutations causing Gaucher disease.
abstract: Glucocerebrosidase is a lysosomal enzyme responsible for hydrolysis of glucosylceramide to ceramide and glucose. Mutations disrupting the function of this enzyme cause autosomal recessive Gaucher disease. This disease is very heterogeneous. The clinical heterogeneity is due to a large number of mutations within the gene encoding glucocerebrosidase. To date 36 mutations have been described in Gaucher disease. In this part we present the mutations and review the more common ones. We also review the glucocerebrosidase natural activator, designated saposin C and mutations in its gene, associated with Gaucher disease.
authors.affiliation: Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Horowitz
authors.forename: A
authors.initials: A
authors.lastname: Zimran
mesh_terms: D001483:Base Sequence; D004789:Enzyme Activation / Q000235:genetics; D005776:Gaucher Disease / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D005796:Genes; D005962:Glucosylceramidase / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D011498:Protein Precursors / Q000235:genetics; D049231:Saposins
chemical_list: D006023:Glycoproteins; C483345:PSAP protein, human; D011498:Protein Precursors; D049231:Saposins; D005962:Glucosylceramidase