GBA2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Glucosidase, beta (bile acid) 2
Identifiers
Symbols GBA2 ; SPG46
External IDs OMIM609471 MGI2654325 HomoloGene10859 ChEMBL: 3761 GeneCards: GBA2 Gene
EC number 3.2.1.45
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.[1][2] It has glucosylceramidase (EC 3.2.1.45) activity.

Function[edit]

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.[2]

See also[edit]

References[edit]

  1. ^ Matern H, Boermans H, Lottspeich F, Matern S (Oct 2001). "Molecular cloning and expression of human bile acid beta-glucosidase". J Biol Chem 276 (41): 37929–33. doi:10.1074/jbc.M104290200. PMID 11489889. 
  2. ^ a b "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2". 

Further reading[edit]