GBA
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | glucosylceramidase beta |
| EntrezGene | 2629 |
| PheGenI | 2629 |
| VariationViewer | 2629 |
| ClinVar | GBA |
| GeneCards | GBA |
| dbSNP | 2629 |
| Diseases | GBA |
| SADR | 2629 |
| HugeNav | 2629 |
| wikipedia | GBA |
| GBA | |
| gopubmed | GBA |
| EVS | GBA |
| HEFalMp | GBA |
| MyGene2 | GBA |
| 23andMe | GBA |
| UniProt | P04062 |
| Ensembl | ENSG00000177628 |
| OMIM | 606463 |
| # SNPs | 87 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i4000386 | 155,204,793 | ||
| i4000415 | 155,205,634 | ||
| i4000417 | 155,210,452 | ||
| i4000419 | 155,205,563 | ||
| rs104886460 | 7 | 155,240,629 | |
| rs1057524702 | 0 | 155,237,480 | |
| rs1064644 | 3 | 155,238,192 | |
| rs1064651 | 8 | 155,235,727 | |
| rs1135675 | 0 | 155,235,203 | |
| rs1141814 | 3 | 155,239,934 | |
| rs121908295 | 3 | 155,235,708 | |
| rs121908297 | 3 | 155,238,519 | |
| rs121908298 | 3 | 155,237,357 | |
| rs121908299 | 3 | 155,238,624 | |
| rs121908300 | 3 | 155,238,144 | |
| rs121908301 | 3 | 155,235,057 | |
| rs121908302 | 3 | 155,240,033 | |
| rs121908303 | 3 | 155,237,577 | |
| rs121908304 | 0 | 155,236,416 | |
| rs121908305 | 0 | 155,236,379 | |
| rs121908306 | 3 | 155,236,328 | |
| rs121908307 | 3 | 155,236,261 | |
| rs121908308 | 3 | 155,236,295 | |
| rs121908309 | 0 | 155,236,277 | |
| rs121908310 | 0 | 155,235,760 | |
| rs121908311 | 3 | 155,235,823 | |
| rs121908312 | 3 | 155,239,716 | |
| rs121908313 | 3 | 155,237,470 | |
| rs121908314 | 3 | 155,235,841 | |
| rs147138516 | 0 | 155,238,570 | |
| rs2230288 | 1 | 155,236,376 | |
| rs35095275 | 6 | 155,205,043 | |
| rs364897 | 1 | 155,238,215 | |
| rs367968666 | 0 | 155,237,458 | |
| rs368060 | 0 | 155,235,217 | |
| rs381737 | 6 | 155,238,141 | |
| rs387906315 | 8 | 155,240,660 | |
| rs397515515 | 0 | 155,208,421 | |
| rs397518433 | 3 | 155,240,673 | |
| rs397518434 | 3 | 155,238,573 | |
| rs398123526 | 0 | 155,236,409 | |
| rs398123527 | 0 | 155,236,298 | |
| rs398123528 | 0 | 155,235,829 | |
| rs398123529 | 0 | 155,238,618 | |
| rs398123530 | 0 | 155,238,597 | |
| rs398123532 | 3 | 155,238,270 | |
| rs398123534 | 0 | 155,207,965 | |
| rs409652 | 3 | 155,238,174 | |
| rs421016 | 6 | 155,235,252 | |
| rs439898 | 3 | 155,238,630 | |
| ... further results | |||
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.
Clinically, variation in the GBA gene has been linked to Gaucher disease, Parkinson's disease, and Lewy body dementia. In brief:
- 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.
- Carriers of a single neuropathic GBA mutation are at ~3 fold higher risk for cognitive impairment/decline [PMID 27717005]
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 rs421016 |
Ancestry v2c, 23andMe v3, HumanOmni1Quad |
| 606463.0003 | N370S | rs76763715 | Ancestry v2c, Ancestry v2d |
| 606463.0005 | V394L | rs80356769 | Ancestry v2, Ancestry v2c, Ancestry v2d |
| 606463.0006 | D409H, Asp409His | rs1064651 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, 23andMe v1, Ancestry v2d |
| 606463.0013 | Phe213Ile | rs381737 | |
| 606463.0014 | 84GG | rs387906315 | Ancestry v2, Ancestry v2d |
| 606463.0015 | ISV2+1 | rs104886460 | |
| 606463.0026 | Asn188Ser | rs364897 | 23andMe v4, Ancestry v2, 23andMe v5, 23andMe v3, Ancestry v2d |
| (none) | E326K | rs2230288 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Illumina Human 1M, Ancestry v2d |
