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.