DNAAF5

dynein axonemal assembly factor 5

Ensembl:
ENSG00000164818
UniProt:
Q86Y56
OMIM:
614864
Synonyms:
CILD18, FLJ20397, FLJ25564, FLJ31671, FLJ39381

Cilia effects upon perturbation of DNAAF5

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, decreased lean body mass
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion

Function

Preassembly and/or stability of both outer and inner axonemal dynein arms, required for ciliary motility. Interacts with D I2 in the initial step of outer dynein arms assembly ( 25232951)

Model organism evidence

Mus musculus (2 references)

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.

PMIDs: 37104040, 36712068