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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DPH1-20-RE | 20 (40 μL) | 200 μL |  |
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| DPH1-20-OR | 20 (40 μL) | 200 μL |  |
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| DPH1-20-GO | 20 (40 μL) | 200 μL |  |
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| DPH1-20-GR | 20 (40 μL) | 200 μL |  |
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| DPH1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : DPH1
Gene Name : Diphthamide biosynthesis 1
Chromosome : CHR 17: 203,013,6-204,343,0
Locus : 17p13.3
Alt. Genes : ZNF263
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