DDX59

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

References: PMID:23972372, PMID:28711741

Subcellular localization

basal body, nucleus, ciliary tip

References: PMID:41005307, PMID:23972372

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.