Girish Mahajan (Editor)

GBA2

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Species
  
Human

Entrez
  
57704

Human
  
Mouse

Ensembl
  
ENSG00000070610

Aliases
  
GBA2, SPG46, AD035, NLGase, glucosylceramidase beta 2

External IDs
  
MGI: 2654325 HomoloGene: 10859 GeneCards: GBA2

GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans. 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.

References

GBA2 Wikipedia