The GBA gene encodes an enzyme known as acid beta-glucocerebrosidase or beta-glucosidase, a lysosomal enzyme that catalyzes the breakdown of a fatty waste product called glucocerebroside. Medically, the primary relevance of the GBA gene comes about from what happens when it's inactive. Specifically, having too little glucocerebrosidase results in the build-up of glucocerebroside, mostly in the liver and spleen and to a lesser extent in the bones, lungs and other organs.
- Gaucher disease
- Over 200 variants in the GBA gene have been linked to one or more of the 3 types of Gaucher disease.
- Inheritance is recessive, so two inactive GBA alleles must be inherited to be affected.
- Among Ashkenazi Jews, the carrier frequency for GBA mutation may be about 1 in 15.
- Parkinson's disease
- Mutations in the GBA gene are the common genetic risk factor known to date.
- Carriers of a single GBA mutation are at ~5 fold higher risk for Parkinson's disease.
Some of the GBA SNPs in SNPedia, listed in order of their OMIM allelic variant number, include:
|OMIM variant||Common Name(s)||rs# in SNPedia||Platforms|
|606463.0001||L444P, Leu444Pro|| rs35095275
23andMe v3, HumanOmni1Quad
|606463.0006||D409H, Asp409His||rs1064651||23andMe v1, 23andMe v3, 23andMe v4, Ancestry v2|
|606463.0026||Asn188Ser||rs364897||23andMe v3, 23andMe v4, Ancestry v2|
|(none)||E326K||rs2230288||23andMe v3, Illumina Human 1M, 23andMe v4, Ancestry v2|