Aliases for GBA Gene
External Ids for GBA Gene
Previous HGNC Symbols for GBA Gene
Previous GeneCards Identifiers for GBA Gene
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
GeneCards Summary for GBA Gene
GBA (Glucosidase, Beta, Acid) is a Protein Coding gene. Diseases associated with GBA include gaucher disease, type i and gaucher disease, type ii. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include receptor binding and glucosylceramidase activity.
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 18.104.22.168 and 22.214.171.124 respectively), which are 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 respectively