Aliases for GBA Gene
- Glucosylceramidase Beta 2 3 5
- D-Glucosyl-N-Acylsphingosine Glucohydrolase 3 4
- Lysosomal Acid Glucosylceramidase 3 4
- Cholesterol Glucosyltransferase 3 4
- Cholesteryl-Beta-Glucosidase 3 4
- Glucosidase, Beta, Acid 2 3
- Beta-Glucocerebrosidase 3 4
- Acid Beta-Glucosidase 3 4
- Lysosomal Acid GCase 3 4
- Imiglucerase 3 4
- Alglucerase 3 4
- EC 188.8.131.52 4 51
External Ids for GBA Gene
Previous HGNC Symbols for GBA Gene
Previous GeneCards Identifiers for GBA Gene
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]
GeneCards Summary for GBA Gene
GBA (Glucosylceramidase Beta) is a Protein Coding gene. Diseases associated with GBA include Gaucher Disease, Type I and Gaucher Disease, Perinatal Lethal. Among its related pathways are Lysosome and Chaperonin-mediated protein folding. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and glucosylceramidase activity.
UniProtKB/Swiss-Prot Summary for GBA Gene
Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485).
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.