QuickView for GBA3 (gene)

Gene Symbol:

GBA3 Homo sapiens

Full name:

glucosylceramidase beta 3 (gene/pseudogene)

Synonyms:

CBG, CBGL1, GLUC, KLRP, cytosolic beta-glucosidase, cytosolic beta-glucosidase-like protein 1, glucosidase, beta, acid 3 (cytosolic), klotho-related protein

Genomic Location:

Chr 4: 22303688-22430290

Description:

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...

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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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Orthologs:

Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

4p15.2

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