GBA2

GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans.[5][6] It has glucosylceramidase (EC 3.2.1.45) activity.

GBA2
Identifiers
AliasesGBA2, SPG46, AD035, NLGase, glucosylceramidase beta 2
External IDsOMIM: 609471 MGI: 2654325 HomoloGene: 10859 GeneCards: GBA2
Orthologs
SpeciesHumanMouse
Entrez

57704

230101

Ensembl

ENSG00000070610

ENSMUSG00000028467

UniProt

Q9HCG7

Q69ZF3

RefSeq (mRNA)

NM_020944
NM_001330660

NM_172692

RefSeq (protein)

NP_001317589
NP_065995

NP_766280

Location (UCSC)Chr 9: 35.74 – 35.75 MbChr 4: 43.57 – 43.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000070610 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000028467 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2".

Further reading


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