GBA
glucosidase, beta, acid
Synonyms:
GBA1, GCB, GLUC
Species:
Human GBA (2629), Mouse Gba (14466), Rat Gba (684536), Zebrafish gba (559072), domestic cat GBA (101091083), cow GBA (537087), dog GBA (612206), chicken GBA (777161), sheep GBA (101117379), naked mole-rat Gba (101704109)
UniProtKB ID:
Gene ID:
- Human(2629) Summary: 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]
- Mouse(14466) glucosidase, beta, acid
- Rat(684536) glucosidase, beta, acid
- Zebrafish(559072) glucosidase, beta, acid
- domestic cat(101091083) glucosidase, beta, acid
- cow(537087) glucosidase, beta, acid
- dog(612206) glucosidase, beta, acid
- chicken(777161) glucosidase, beta; acid (includes glucosylceramidase)
- sheep(101117379) glucosidase, beta, acid
- naked mole-rat(101704109) glucosidase, beta, acid
- domestic guinea pig(100715257) glucosidase, beta, acid
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