DNAAF3

dynein axonemal assembly factor 3

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000167646
UniProt:: Q8N9W5
OMIM:: 614566
Synonyms:: C19ORF51, CILD2, FLJ36139, FLJ40069, PCD, PF22

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 body wall morphology, preweaning lethality, incomplete penetrance
Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:22387996, PMID:10745040

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm
Cell migration & adhesion

Function

Needed for assembly of multiple axonemal inner and outer dynein arms into complexes beefore being transported into cilia, critical for nodal cilia motility. Loss prevents correct assembly of inner and outer dynein arms, abolishing motility of respiratory cilia and giving rise to classical primary ciliary dyskinesia with defective left- right organ asymmetry and male infertility (

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