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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
# SNPs85
 Max MagnitudeChromosome positionSummary
i4000386155,204,793
i4000415155,205,634
i4000417155,210,452
i4000419155,205,563
rs1048864607155,240,629
rs10575247020155,237,480
rs10646440155,238,192
rs10646518155,235,727
rs11356750155,235,203
rs11418140155,239,934
rs1219082950155,235,708
rs1219082970155,238,519
rs1219082980155,237,357
rs1219082990155,238,624
rs1219083000155,238,144
rs1219083010155,235,057
rs1219083020155,240,033
rs1219083030155,237,577
rs1219083040155,236,416
rs1219083050155,236,379
rs1219083060155,236,328
rs1219083070155,236,261
rs1219083080155,236,295
rs1219083090155,236,277
rs1219083100155,235,760
rs1219083110155,235,823
rs1219083120155,239,716
rs1219083130155,237,470
rs1219083140155,235,841
rs1471385160155,238,570
rs22302881155,236,376
rs350952756155,205,043
rs3648971
rs3679686660155,237,458
rs3680600155,235,217
rs3817376155,238,141
rs3879063158155,240,660
rs3975155150155,208,421
rs3975184330155,240,673
rs3975184340155,238,573
rs3981235260155,236,409
rs3981235270155,236,298
rs3981235280155,235,829
rs3981235290155,238,618
rs3981235300155,238,597
rs3981235320155,238,270
rs3981235340155,207,965
rs4096520155,238,174
rs4210166155,235,252
rs4398980155,238,630
... 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

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, 23andMe v5
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, 23andMe v5
(none) E326K rs2230288 23andMe v3, Illumina Human 1M, 23andMe v4, Ancestry v2, 23andMe v5