Full Name
Glucosylceramidase Beta 3 (Gene/Pseudogene)

Keywords
Glucosylceramidase Beta 3 (Gene/Pseudogene); Cytosolic Beta-Glucosidase-Like Protein 1; Glucosidase, Beta, Acid 3 (Cytosolic); Klotho-Related Protein; EC 3.2.1.21; CBGL1

Background
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.
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