GBA2

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. [provided by RefSeq, Jul 2008]

Description

Glucosylceramidase beta 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Golgi apparatus, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (35736866 - 35749228)

Ensembl ID

ENSG00000070610  (ver. 103.38)

Orthologs

Mouse Gba2: ENSMUSG00000028467

UniProt

Q9HCG7

neXtProt

NX_Q9HCG7

Human splice variants
Mouse splice variants

Protein structure