DNAAF4

dynein axonemal assembly factor 4

Tier: Gold Standard Ciliary Genes

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

Phenotypes

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

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:23872636

Subcellular localization

basal body

References: PMID:23872636, PMID:23650548

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 DNAAF2 at an early step of cytoplasmic ODA and IDA assembly (23872636). Involved in ciliary and basal body biogenesis (23650548)

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