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Protein Coding Gene : Dph1 diphthamide biosynthesis 1
Primary Identifier  MGI:2151233 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  116905
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables 2-(3-amino-3-carboxypropyl)histidine synthase activity. Involved in protein histidyl modification to diphthamide. Acts upstream of or within fibroblast proliferation. Predicted to be located in cell junction and nucleoplasm. Is expressed in several structures, including gonad; gut; hemolymphoid system gland; liver; and lung. Used to study Miller-Dieker lissencephaly syndrome. Human ortholog(s) of this gene implicated in diphthamide deficiency syndrome 1. Orthologous to human DPH1 (diphthamide biosynthesis 1).
PHENOTYPE: Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected. [provided by MGI curators]
  • synonyms:
  • AW551873,
  • diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1,
  • MGI:1916859,
  • Dph2l1,
  • Ovca1,
  • RIKEN cDNA 4930488F09 gene,
  • MGI:1922243,
  • expressed sequence AW551873,
  • MGI:2144567,
  • Dph1,
  • diphthamide biosynthesis 1,
  • 4930488F09Rik
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