GBA2

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GBA2
Identifiers
AliasesGBA2, SPG46, AD035, NLGase, glucosylceramidase beta 2
External IDsMGI: 2654325 HomoloGene: 10859 GeneCards: GBA2
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for GBA2
Genomic location for GBA2
Band9p13.3Start35,736,866 bp[1]
End35,749,228 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans.[5][6] 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.[6]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000070610 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028467 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. ^ a b "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2". 

Further reading[edit]