GBA1 Chromosome 1
Glucosylceramidase beta 1
Upload your DNA to see your personal genotypes for variants in GBA1.
What This Gene Does
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Glycoside hydrolase family|Glucosylceramidases"
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000177628
Associated Conditions (36)
7 conditions
Parkinson disease
late-onset
Gaucher disease
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type II
Gaucher disease type III
Alpha thalassemia-X-linked intellectual disability syndrome
Colon adenocarcinoma
Inborn genetic diseases
GBA1-related disorder
Gaucher disease perinatal lethal
Lewy body dementia
Parkinsonian disorder
Rigidity
Cogwheel rigidity
Tremor
6 conditions
See cases
+16 more conditions
Key Variants
RS1057942
Conflicting classifications of pathogenicity
7 conditions, Parkinson disease, late-onset
Health Risk
RS1141802
Conflicting classifications of pathogenicity
Gaucher disease type I, Gaucher disease type I
Health Risk
RS121908297
Conflicting classifications of pathogenicity
Gaucher disease type I, Gaucher disease type I
Health Risk
RS121908301
Conflicting classifications of pathogenicity
Gaucher disease type I, Gaucher disease type I
Health Risk
RS1264734195
Conflicting classifications of pathogenicity
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II
Health Risk
RS1296507371
Conflicting classifications of pathogenicity
Gaucher disease type I, 7 conditions, Gaucher disease type I
Health Risk
RS1376479747
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS138498426
Conflicting classifications of pathogenicity
Gaucher disease type I, Gaucher disease type II, Gaucher disease
Health Risk
RS1392291885
Conflicting classifications of pathogenicity
Gaucher disease type I, Gaucher disease, Gaucher disease type I
Health Risk
RS145773486
Conflicting classifications of pathogenicity
Gaucher disease type I, Gaucher disease type I
Health Risk
RS147411159
Conflicting classifications of pathogenicity
Gaucher disease, Gaucher disease
Health Risk
RS1484043383
Conflicting classifications of pathogenicity
Gaucher disease, Gaucher disease
Health Risk
All Variants (180)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1009850780 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Parkinson disease, late-onset |
| RS104886460 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Gaucher disease type II, Gaucher disease type I |
| RS1064644 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
| RS1064651 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II |
| RS121908308 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type III, Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
| RS121908311 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type III, Gaucher disease type I, Gaucher disease |
| RS121908312 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type I, Gaucher disease type III, Gaucher disease |
| RS1237637353 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Parkinson disease, late-onset |
| RS1366567865 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, 7 conditions, Gaucher disease |
| RS1450426641 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, 7 conditions, Gaucher disease |
| RS2148079453 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS381418 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type I, Gaucher disease type II, Gaucher disease type III |
| RS381737 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type III, Gaucher disease type II, Gaucher disease type I |
| RS398123527 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I |
| RS398123528 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Gaucher disease type I, Gaucher disease |
| RS398123532 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II |
| RS421016 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type II, Gaucher disease type I, Dementia |
| RS74500255 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II |
| RS749714463 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, 7 conditions, Gaucher disease |
| RS74979486 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Gaucher disease |
| RS75822236 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type I, Gaucher disease, 7 conditions |
| RS76539814 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type I, Gaucher disease type II, Gaucher disease |
| RS773409311 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Gaucher disease |
| RS77369218 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type III, Gaucher disease, Gaucher disease type I |
| RS78198234 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease perinatal lethal, Gaucher disease, Gaucher disease perinatal lethal |
| RS79653797 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type I, Gaucher disease perinatal lethal, Gaucher disease |
| RS80356769 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease type III, Gaucher disease type I, Gaucher disease |
| RS80356772 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
| RS866075757 | Health Risk | Pathogenic/Likely pathogenic | Gaucher disease, 7 conditions, Gaucher disease |
| RS76763715 | Health Risk | Pathogenic/Likely pathogenic; risk factor | Gaucher disease type I, Parkinson disease, late-onset |