DISEASES

Disease-gene associations mined from literature

Literature associating DNAJC24 and coloboma of optic nerve

DNAJC24 [ENSP00000417548]

DnaJ homolog subfamily C member 24; Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta); Belongs to the DPH4 family.

Synonyms:  DNAJC24,  DNAJC24p,  hDNAJC24,  A0A0A0MT77,  D3DQZ6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM