DNAAF5

dynein axonemal assembly factor 5

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000164818
UniProt:: Q86Y56
OMIM:: 614864
Synonyms:: CILD18, FLJ20397, FLJ25564, FLJ31671, FLJ39381, HEATR2

Ciliogenesis screen results (1 screens)

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

References: PMID:23040496, PMID:20350728, PMID:29363216

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:25232951

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 DNAI2 in the initial step of outer dynein arms assembly ( 25232951)

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