Biology:GBA2

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans.[1][2] 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.[2]

See also

References

  1. "Molecular cloning and expression of human bile acid beta-glucosidase". J Biol Chem 276 (41): 37929–33. Oct 2001. doi:10.1074/jbc.M104290200. PMID 11489889. 
  2. 2.0 2.1 "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57704. 

Further reading