Glucosidase, Beta (Bile Acid) 2 (GBA2) Antibody – Rabbit Polyclonal

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]

GBA2: Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O- glucosides, however, the relevance of such activity is unclear in vivo. Belongs to the non-lysosomal glucosylceramidase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Endoplasmic reticulum; Hydrolase; Membrane protein, integral; EC 3.2.1.45

Chromosomal Location of Human Ortholog: 9p13.3

Cellular Component: Golgi membrane; endoplasmic reticulum membrane; smooth endoplasmic reticulum; plasma membrane; integral to membrane

Molecular Function: beta-glucosidase activity; glucosylceramidase activity

Biological Process: glucosylceramide catabolic process; sphingolipid metabolic process; glycoside catabolic process; bile acid metabolic process; glycosphingolipid metabolic process; central nervous system neuron development

Disease: Spastic Paraplegia 46, Autosomal Recessive