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GBA

From SNPedia

is agene
is mentioned by
Full nameglucosylceramidase beta
EntrezGene2629
PheGenI2629
VariationViewer2629
ClinVarGBA
GeneCardsGBA
dbSNP2629
DiseasesGBA
SADR2629
HugeNav2629
wikipediaGBA
googleGBA
gopubmedGBA
EVSGBA
HEFalMpGBA
MyGene2GBA
23andMeGBA
UniProtP04062
EnsemblENSG00000177628
OMIM606463
# SNPs59
 Max MagnitudeChromosome positionSummary
i4000386155,204,793
i4000415155,205,634
i4000417155,210,452
i4000419155,205,563
rs10646440155,207,983
rs10646518155,205,518
rs11356750155,235,203
rs11418140155,209,725
rs1471385160155,238,570
rs22302881155,206,167
rs350952756155,205,043
rs3648971155,208,006
rs3679686660155,207,249
rs3680600155,205,008
rs3817376155,207,932
rs3879063158155,210,451
rs3975155150155,208,421
rs3975184330155,210,464
rs3975184340155,208,364
rs3981235260155,206,200
rs3981235270155,206,089
rs3981235280155,205,620
rs3981235290155,208,409
rs3981235300155,208,388
rs3981235320155,208,061
rs3981235340155,207,965
rs4096520
rs4210166155,205,043
rs4398980
rs617489060155,238,228
rs745002550155,207,367
rs745981360155,205,541
rs7475069790
rs758222360
rs765398140155,206,175
rs773692180155,205,517
rs778290170155,209,730
rs7811528680
rs781982340155,206,211
rs783966500155,206,217
rs7862009790
rs789731080155,207,244
rs7947277080
rs7947279080
rs796537970155,208,420
rs803567590155,210,876
rs803567600155,210,442
rs803567650155,206,131
rs803567720155,204,986
rs803567730155,204,793
... 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

23andMe v3, HumanOmni1Quad
606463.0003 N370S rs76763715
606463.0005 V394L rs80356769 Ancestry v2
606463.0006 D409H, Asp409His rs1064651 23andMe v1, 23andMe v3, 23andMe v4, Ancestry v2
606463.0013 Phe213Ile rs381737
606463.0014 84GG rs387906315 Ancestry v2
606463.0015 ISV2+1 rs104886460
606463.0026 Asn188Ser rs364897 23andMe v3, 23andMe v4, Ancestry v2
(none) E326K rs2230288 23andMe v3, Illumina Human 1M, 23andMe v4, Ancestry v2