DNAJC24

Chr 11

DnaJ heat shock protein family (Hsp40) member C24

Also known as: DPH4, JJJ3, ZCSL3

NCBI Gene: 120526 ENSG00000170946 UniProt: Q6P3W2 OMIM: 611072

DNAJC24 encodes a protein that stimulates the ATPase activity of Hsp70-type chaperones and participates in diphthamide biosynthesis, a post-translational modification of translation elongation factor 2 (EEF2). Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene shows minimal constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

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. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.81

LOEUF

Multiple*

Mechanism· predicted