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GBA3 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 Name: | glucosidase, beta, acid 3 |
Synonyms: | GBA3, CBGL1, GLUC, Klotho-related protein, KLrP, CBG, Cytosolic beta-glucosidase |
Target Sequences: | NM_020973 NP_066024.1 Q9H227 |
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