Gene Symbol | GBA |
Entrez Gene ID | 2629 |
Full Name | glucosylceramidase beta |
Synonyms | GBA1,GCB,GLUC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Gaucher disease, type I, 230800 (3); Gaucher disease, type II, 230900 (3); Gaucher disease, type III, 231000 (3); Gaucher disease, type IIIC, 231005 (3); Gaucher disease, perinatal lethal, 608013 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3); {Lewy body dementia, susceptibility to}, 127750 (3) |