Aliases for GBA2 Gene
- Glucosylceramidase Beta 2 2 3 5
- Non-Lysosomal Glucosylceramidase 2 3 4
- Cholesterol Glucosyltransferase GBA2 3 4
- Bile Acid Glucosyl Transferase GBA2 3 4
- Cholesteryl-Beta-Glucosidase GBA2 3 4
- Glucosidase, Beta (Bile Acid) 2 2 3
- Bile Acid Beta-Glucosidase GBA2 3 4
- Beta-Glucocerebrosidase 2 3 4
- Glucosylceramidase 2 3 4
- EC 18.104.22.168 4 50
External Ids for GBA2 Gene
Previous HGNC Symbols for GBA2 Gene
Previous GeneCards Identifiers for GBA2 Gene
This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
GeneCards Summary for GBA2 Gene
GBA2 (Glucosylceramidase Beta 2) is a Protein Coding gene. Diseases associated with GBA2 include Spastic Paraplegia 46, Autosomal Recessive and Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include beta-glucosidase activity and glucosylceramidase activity.
UniProtKB/Swiss-Prot Summary for GBA2 Gene
Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide (PubMed:17105727, PubMed:30308956). Glucosylceramides are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its water solubility and biological properties (By similarity). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (By similarity). Finally, may also play a role in the metabolism of bile acids (PubMed:11489889, PubMed:9111029, PubMed:17080196). It is able to hydrolyze bile acid 3-O-glucosides but also to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:9111029, PubMed:17080196). However, the relevance of both activities is unclear in vivo (By similarity).
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.