
GBA (Glucocerebrosidase gene)
The GBA gene provides instructions for producing an enzyme called glucocerebrosidase, which is essential for breaking down specific fats in cells. When GBA has mutations or changes, the enzyme's activity decreases, leading to the accumulation of fatty substances inside cells. This buildup is a hallmark of Gaucher disease, a genetic disorder. Additionally, GBA mutations are linked to a higher risk of developing neurological conditions like Parkinson’s disease. Overall, GBA plays a critical role in cellular health, and its proper function is important for maintaining normal metabolism and preventing certain diseases.