Full name: diphthamide biosynthesis 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DEDSSH; DPH2L; DPH2L1; OVCA1

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]

Expression: Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 16.0) and 25 other tissues

Gene size: 13787bp

Exon count: 13