DNAAF4

dynein axonemal assembly factor 4

Ensembl:
ENSG00000256061
UniProt:
Q8WXU2
OMIM:
608706
Synonyms:
CILD25, DYX1C1, EKN1, FLJ37882, PF23

Cilia effects upon perturbation of DNAAF4

Phenotypes

Mouse phenotype:
impaired pupillary reflex, preweaning lethality, incomplete penetrance, trunk curl, hyperactivity
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transcription regulation

Function

Cytoplasmic axonemal dynein assembly factor (DYX1C1) that probably acts together with D AF2 at an early step of cytoplasmic ODA and IDA assembly (23872636). Involved in ciliary and basal body biogenesis (23650548)

Model organism evidence

Danio rerio (1 reference)

In addition, they both have been characterized as ciliopathy genes.

PMIDs: 37237337