GBA3( Human )

Entrez Gene 57733 Entrez Gene 57733
glucosylceramidase beta 3 (gene/pseudogene)

Alias

CBG|CBGL1|GLUC|KLRP

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].

Product Category