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Gene : TGDS Homo sapiens

Name  ? TDP-glucose 4,6-dehydratase Cytological Location  13q32.1
Brief Description  TDP-glucose 4,6-dehydratase
description  The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
  • synonyms:
  • HGNC:20324,
  • short chain dehydrogenase/reductase family 2E, member 1,
  • uc001vlw.4,
  • CATMANS,
  • OTTHUMG00000046308,
  • TDPGD,
  • TDPGD,
  • SDR2E1,
  • NM_014305,
  • TGDS,
  • SDR2E1,
  • AF048686
  • identifiers:
  • 23483,
  • ENSG00000088451,
  • TGDS

Genome feature

Region: gene ? Length: 22222  
Location: 13:94574054-94596275 reverse strand Cyto location: 13q32.1


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1 Pathways

330 SN Ps

5 Cross References

19 Data Sets

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0 Located Features

90 Rna Seq Results