GBA2

GBA2
Identifiers
Aliases GBA2, SPG46, AD035, NLGase, glucosylceramidase beta 2
External IDs MGI: 2654325 HomoloGene: 10859 GeneCards: GBA2
Orthologs
Species Human Mouse
Entrez

57704

230101

Ensembl

ENSG00000070610

ENSMUSG00000028467

UniProt

Q9HCG7

Q69ZF3

RefSeq (mRNA)

NM_020944

NM_172692

RefSeq (protein)

NP_065995.1

NP_766280.2

Location (UCSC) Chr 9: 35.74 – 35.75 Mb Chr 4: 43.57 – 43.58 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans.[3][4] 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.[4]

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 1 2 "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2".

Further reading


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