Article
Mutations causing Gaucher disease.
Human mutation - 1 Jan 1994
Horowitz M, Zimran A
Abstract excerpt
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 m...
Topics
- Base Sequence
- Enzyme Activation
- Gaucher Disease
- Genes
- Glucosylceramidase
- Glycoproteins
- Humans
- Molecular Sequence Data
- Mutation
- Protein Precursors
- Saposins