What chromosome does Gaucher disease affect?

Gaucher disease is an inherited disorder that affects chromosome 1. Specifically, mutations in the GBA gene, located on chromosome 1, cause the disease. The GBA gene encodes the lysosomal enzyme beta-glucocerebrosidase, which is responsible for breaking down a fatty substance called glucocerebroside. When this enzyme is deficient or absent, glucocerebroside accumulates in the cells and leads to the symptoms of Gaucher disease, including fatigue, enlarged spleen and liver, bone pain, and neurological problems.

Genetic Disorders - Related Articles