GBA
Description
The GBA gene, located on chromosome 1, provides instructions for creating the enzyme glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside, found in the brain, spleen, liver, and bone marrow. Mutations in the GBA gene can lead to a buildup of glucocerebroside, causing various health problems. Gaucher disease, a genetic disorder characterized by an enlarged liver and spleen, is the most common disorder associated with GBA mutations. However, the GBA gene‘s influence extends beyond Gaucher disease, playing a role in Parkinson‘s disease, dementia, and other neurodegenerative conditions.
Associated Diseases
- Gaucher Disease
- Parkinson‘s Disease
- Dementia with Lewy Bodies
- Alzheimer‘s Disease
- Multiple System Atrophy
- Amyotrophic Lateral Sclerosis (ALS)
- Corticobasal Degeneration
Did you know?
Mutations in the GBA gene are the most common genetic risk factor for Parkinson‘s disease.
