GBA2

Glucosidase, beta (bile acid) 2
Identifiers
Symbols	GBA2 ; AD035; NLGase; SPG46
External IDs	OMIM: 609471 MGI: 2654325 HomoloGene: 10859 ChEMBL: 3761 GeneCards: GBA2 Gene
EC number	3.2.1.45
Gene ontology Molecular function • glucosylceramidase activity • beta-glucosidase activity Cellular component • Golgi membrane • endoplasmic reticulum membrane • smooth endoplasmic reticulum • plasma membrane • integral component of membrane Biological process • sphingolipid metabolic process • glucosylceramide catabolic process • glycosphingolipid metabolic process • bile acid metabolic process • glycoside catabolic process • central nervous system neuron development • small molecule metabolic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57704	230101
Ensembl	ENSG00000070610	ENSMUSG00000028467
UniProt	Q9HCG7	Q69ZF3
RefSeq (mRNA)	NM_020944	NM_172692
RefSeq (protein)	NP_065995	NP_766280
Location (UCSC)	Chr 9: 35.74 – 35.75 Mb	Chr 4: 43.57 – 43.58 Mb
PubMed search	[1]	[2]

Non-lysosomal glucosylceramidase is an enzyme that in humans is encoded by the GBA2 gene. It has glucosylceramidase (EC 3.2.1.45) activity.

Function

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.

See also

• Closely related enzymes
  • GBA: acid β-glucosidase (lysosomal), EC 3.2.1.45
  • GBA3: acid β-glucosidase (cytosolic), EC 3.2.1.21