DISEASES

Disease-gene associations mined from literature

Literature associating DPH3 and Miller-Dieker lissencephaly syndrome

DPH3 [ENSP00000419599]

DPH3 homolog; Essential for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in elongation factor 2 (EEF2) and which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta); Belongs to the DPH3 family.

Synonyms:  DPH3,  DPH3p,  hDPH3,  A0A024R2P5,  Q96FX2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM