what is the mutation of gaucher disease
Genetics of Gaucher's disease. Gaucher's disease is caused by mutations in the GBA gene, which codes for the beta-glucocerebrosidase enzyme. This enzyme is responsible for breaking down glucocerebroside into glucose (a sugar molecule) and ceramide (a fat molecule).hese mutations leads to the most common form of Gaucher's disease. The condition does not affect the brain and is also referred to as non-neuropathic Gaucher's disease. This illness is common among Ashkenazi Jews and the median age-at-diagnosis is 28 years.