Mutations causing Gaucher disease

Hum Mutat. 1994;3(1):1-11. doi: 10.1002/humu.1380030102.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Base Sequence
  • Enzyme Activation / genetics
  • Gaucher Disease / diagnosis
  • Gaucher Disease / enzymology
  • Gaucher Disease / epidemiology
  • Gaucher Disease / genetics*
  • Genes*
  • Glucosylceramidase / genetics*
  • Glucosylceramidase / metabolism
  • Glycoproteins / genetics
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Protein Precursors / genetics
  • Saposins


  • Glycoproteins
  • PSAP protein, human
  • Protein Precursors
  • Saposins
  • Glucosylceramidase