XB-GENEPAGE-963021
???displayGene.symbol???:
dph1
???displayGene.name???:
diphthamide biosynthesis 1
???displayGene.synonyms???
dph2l
,
dph2l1
,
ovca1
(
Nomenclature history )
???displayGene.geneFunction???
Diphthamide biosynthesis protein
AI Protein Function
:
dph1 encodes a cytoplasmic enzyme that catalyzes the first step of diphthamide biosynthesis on eEF2, a modification required for translation fidelity. It is localized to the cytoplasm and is expressed ...[+]
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Diseases:
Disease Ontology:
diphthamide deficiency syndrome 1
MIM:
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE H
External Links:
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