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Gene : DPH1 Homo sapiens

Name  ? diphthamide biosynthesis 1 Cytological Location  17p13.3
Brief Description  diphthamide biosynthesis 1
Description  The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
  • synonyms:
  • diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae),
  • uc002fts.4,
  • DPH1 homolog (S. cerevisiae),
  • HGNC:3003,
  • DPH2L1,
  • DPH2L,
  • ovarian tumor suppressor candidate 1,
  • NM_001383,
  • DPH1,
  • DEDSSH,
  • S81752,
  • OVCA1,
  • OTTHUMG00000177724,
  • OVCA1,
  • DPH2L1,
  • DPH-like 1 (S. cerevisiae),
  • DPH2L
  • identifiers:
  • 1801,
  • ENSG00000108963,
  • DPH1

Genome feature

Region: gene ? Length: 14856  
Location: 17:2030112-2044967 Cyto location: 17p13.3


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results