Aliases for GBA3 Gene
External Ids for GBA3 Gene
Previous GeneCards Identifiers for GBA3 Gene
The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
GeneCards Summary for GBA3 Gene
GBA3 (Glucosylceramidase Beta 3 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with GBA3 include Gaucher's Disease and Perinatal Necrotizing Enterocolitis. Among its related pathways are Metabolism and Galactose metabolism. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-glucosidase activity. An important paralog of this gene is LCT.
UniProtKB/Swiss-Prot for GBA3 Gene
Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. Possesses beta-glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide.
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.