- Gene Overview
- Interaction Network
- Sequence Verification
GBA3, glucosylceramidase beta 3 (gene/pseudogene)
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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. [provided by RefSeq, Mar 2013]
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Gene Synonyms (CBG, CBGL1, GLUC, KLRP, cytosolic beta-glucosidase, cytosolic GCase, cytosolic beta-glucosidase-like protein 1, cytosolic glycosylceramidase, glucosidase beta acid 3, glucosidase, beta, acid 3 (cytosolic), klotho-related protein,)
- NCBI Gene ID:
57733
- Species:
Homo sapiens (Human)
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UNIPROT ID#>>B7Z536
UNIPROT ID#>>A8K9N1
UNIPROT ID#>>Q9H227
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
cell. Learn more about other interacting partners.
glucosylceramidase beta 3 (gene/pseudogene) interacts with:
Paste a protein or nucleic acid sequence in the box below to confirm that it matches
this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see
how a sequence matches to an experimentally-validated ORF clone.
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