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Gene : GBA3 Homo sapiens

Name  ? glucosylceramidase beta 3 (gene/pseudogene) Cytological Location  4p15.2
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 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]
  • synonyms:
  • GLUC,
  • CBG,
  • KLrP,
  • GLUC,
  • AB017913,
  • NR_102355,
  • OTTHUMG00000160448,
  • uc031sdv.2,
  • glucosidase, beta, acid 3 (gene/pseudogene),
  • HGNC:19069,
  • KLRP,
  • klotho-related protein,
  • CBGL1,
  • glucosidase, beta, acid 3 (cytosolic)
  • identifiers:
  • 57733,
  • ENSG00000249948,
  • GBA3

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 4p15.2

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0 Diseases

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287 SN Ps

5 Cross References

13 Data Sets

9 Homologues

0 Located Features

53 Rna Seq Results