GBA

Role in the organism:

The GBA gene encodes an enzyme called glucocerebrosidase, which catalyzes the breakdown of glucocerebroside (a type of fat).

Role in the disorder (state):

Mutations in the GBA gene cause Gaucher's disease, in which the enzyme glucocerebrosidase is absent and glucocerebrosides cannot be decomposed. Fat builds up in the liver, spleen, and bone marrow, causing pain and fatigue. Without therapy, anemia and jaundice may occur, which may have a lethal outcome. While Gaucher's disease is generally rare (at 1 in 100,000 people) it is very common in Ashkenazi Jews, with a frequency of 1 in 500 people. The frequency mentioned is very similar to the incidence of Tay-Sachs' disease (see HEX A gene, chromosome 15).