DDX59

DEAD-box helicase 59

Ensembl:
ENSG00000118197
UniProt:
Q5T1V6
OMIM:
615464
Synonyms:
DKFZP564B1023, ZNHIT5

Cilia effects upon perturbation of DDX59

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal coat/hair pigmentation, preweaning lethality, complete penetrance
Human ciliopathy phenotype:
Joubert syndrome with orofaciodigital defect

Ciliopathy associations

  • Orofaciodigital Syndrome

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism

Function

Mutations in DDX59 cause an autosomal-recessive form of orofaciodigital syndrome, nevertheless, normal ciliogenesis is observed. Decrease in the number of ciliated cells upon DDX59 depletion.

Model organism evidence

Mus musculus (1 reference)

Consistent with the absence of DDX59 representation in ciliome databases and our demonstration of its lack of ciliary localization, ciliogenesis appears to be intact in mutant fibroblasts but ciliary signaling appears to be impaired.

PMIDs: 23972372