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 (Glucosylceramidase Beta) is a Protein Coding gene. Diseases associated with GBA include gaucher disease, type i and gaucher disease, type ii. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. 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, 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.