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GBA3 / CBG

glucosidase, beta, acid 3

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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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).