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Gba2

Function

Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) (PubMed:17080196, PubMed:23250757). GlcCers are membrane glycosphingolipids that have a wide intracellular distribution (PubMed:23250757). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (PubMed:25803043). Also involved in the transglucosylation of cholesterol, transferring glucose from GlcCer, thereby modifying its water solubility and biological properties (PubMed:26724485, PubMed:32144204). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-3-beta-D-glucoside to ceramide (such as N-acylsphing-4-enine) (PubMed:26724485, PubMed:32144204). May play a role in the metabolism of bile acids (PubMed:17080196). Able to hydrolyze bile acid 3-O-glucosides as well as to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:17080196). Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as galactosyl transfer between GalCers and cholesterol in vitro with lower activity compared with their activity against GlcCers (PubMed:32144204).

Pathway

Lipid metabolism; sphingolipid metabolism.

Steroid metabolism; cholesterol metabolism.

Sequence Similarities

Belongs to the non-lysosomal glucosylceramidase family.

Tissue Specificity

Widely expressed at low level (PubMed:17080196). Highly expressed in testis and brain (PubMed:17080196). Ubiquitously expressed in the brain (at protein level) (PubMed:23250757). Expressed by Sertoli cells (at protein level) (PubMed:17080196).

Cellular localization

Alternative names

Kiaa1605, Gba2, Non-lysosomal glucosylceramidase, NLGase, Beta-glucocerebrosidase 2, Bile acid beta-glucosidase GBA2, Bile acid glucosyl transferase GBA2, Cholesterol glucosyltransferase GBA2, Cholesteryl-beta-glucosidase GBA2, Glucosylceramidase 2, Non-lysosomal cholesterol glycosyltransferase, Non-lysosomal galactosylceramidase, Non-lysosomal glycosylceramidase, Beta-glucosidase 2

swissprot:Q69ZF3 entrezGene:230101