DPH1

Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM

DPH1 homolog (S. cerevisiae)

Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity).

Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity).

Peptidyl-diphthamide biosynthetic process from peptidyl-histidine Source: GO_Central

Cytoplasm; Nucleus. Punctate, primarily perinuclear localization.

Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH):
An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies.