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 Disease, Type I. Among its related pathways are Galactose metabolism and Metabolism. Gene Ontology (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 Summary for GBA3 Gene
Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:20728381, PubMed:26724485, PubMed:17595169). Has a significant glucosylceramidase activity in vitro (PubMed:26724485, PubMed:17595169). However, that activity is relatively low and its significance in vivo is not clear (PubMed:26724485, PubMed:17595169, PubMed:20728381). Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330).
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.