Gene Symbol | DPH1 |
Entrez Gene ID | 1801 |
Full Name | diphthamide biosynthesis 1 |
Synonyms | DEDSSH,DPH2L,DPH2L1,OVCA1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3) |