GBA3, Official Symbol GBA3provided by HGNC Official Full Name glucosylceramidase beta 3 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:19069 See related Ensembl:ENSG00000249948 MIM:606619; AllianceGenome:HGNC:19069 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CBG; GLUC; KLRP; CBGL1 Summary The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals 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, Apr 2022] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in duodenum (RPKM 80.7), small intestine (RPKM 79.2) and 3 other tissues See more Orthologs all