Gene: GBA3

Alternate names for this Gene: CBG|CBGL1|GLUC|KLRP

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p15.2

Description of this Gene: glucosylceramidase beta 3 (gene/pseudogene)

Type of Gene: protein-coding