Entrez gene ID | | 2629 |
Official gene symbol | | GBA |
Full name | | glucosidase, beta, acid |
Aliases | | ,GBA1,GCB,GLUC, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1q21 |
Gene position | | 155214653 - 155204239 Map Viewer |
Gene orientation | | minus |
Gene size | | 10415 bp |
Gene sequence |
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OMIM ID | | 606463 |
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