Gene GBA

Also known as

GBA1, GCB, acid beta-glucosidase, glucocerebrosidase

Overview

GBA (Glucosylceramidase Beta) encodes the lysosomal enzyme glucocerebrosidase, which breaks down glucocerebroside (glucosylceramide) into glucose and ceramide. This enzyme is essential for the normal turnover of glycosphingolipids in cell membranes, particularly in macrophages that clear old red blood cells.

Biallelic mutations in GBA cause Gaucher disease, the most common lysosomal storage disorder, particularly prevalent in the Ashkenazi Jewish population where carrier frequency reaches 1 in 15. Heterozygous GBA mutations are also the most common genetic risk factor for Parkinson's disease, increasing risk approximately 5-fold and associated with earlier onset.

Understanding your GBA genetic status is important for carrier screening (especially in Ashkenazi Jewish populations) and Parkinson's disease risk assessment. Enzyme replacement therapy is available for Gaucher disease, and ongoing research explores GBA-targeted therapies for Parkinson's disease.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status & Drug Response Report
• Skincare Panel

Upload raw DNA data to get your very own analysis of gene GBA through your personalized DNA reports.