Aliases for GBA2 Gene
External Ids for GBA2 Gene
Previous HGNC Symbols for GBA2 Gene
Previous GeneCards Identifiers for GBA2 Gene
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]
GeneCards Summary for GBA2 Gene
GBA2 (Glucosylceramidase Beta 2) is a Protein Coding gene. Diseases associated with GBA2 include Spastic Paraplegia 46, Autosomal Recessive and Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include beta-glucosidase activity and glucosylceramidase activity.
UniProtKB/Swiss-Prot for GBA2 Gene
Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) 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. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.