Entrez gene ID | | 57733 |
Official gene symbol | | GBA3 |
Full name | | glucosidase, beta, acid 3 (cytosolic) |
Aliases | | ,CBGL1,GLUC,KLrP,MGC104276,MGC126878, |
Gene summary | | GBA3, or cytosolic beta-glucosidase (EC 3.2.1.21), is a predominantly liver enzyme that efficiently hydrolyzes beta-D-glucoside and beta-D-galactoside, but not any known physiologic beta-glycoside, suggesting that it may be involved in detoxification of plant glycosides (de Graaf et al., 2001 [PubMed 11389701]). GBA3 also has significant neutral glycosylceramidase activity (EC 3.2.1.62), suggesting that it may be involved in a nonlysosomal catabolic pathway of glucosylceramide metabolism (Hayashi et al., 2007 [PubMed 17595169]).[supplied by OMIM] |
Location | | Chromosome: 4 Locus: 4p15.2 |
Gene position | | 22694548 - 22821192 Map Viewer |
Gene orientation | | plus |
Gene size | | 126645 bp |
Gene sequence |
| |
OMIM ID | | 606619 |
|