DNAAF6

dynein axonemal assembly factor 6

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000080572
UniProt:: Q9NQM4
OMIM:: 300933
Synonyms:: CXORF41, MGC35261, NYSAR97, PIH1D3, TWISTER

Ciliogenesis screen results (1 screens)

Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-7.22) PMID:41160700

Phenotypes

Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:28041644

Subcellular localization

basal body, cilia, ciliary tip, rootlet

References: PMID:41005307, PMID:28041644, PMID:28176794, PMID:24421334, PMID:32170493, PMID:42010243

Functional category

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

Function

Also known as PIH1D3. Involved in the cytoplasmatic preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations cause X-linked primary ciliary dyskinesia with ciliary and sperm immotility in humans (28041644, 28176794). Interacts with Dnaic2 (ODA IC2), Hsp70 and Hsp90, and may be required to maintain the stability of the IC1–IC2 complex (24421334).Mutations lead to absence of outer and inner dynein arms in sperm flagella, male infertility and primary ciliary dyskinesia (32170493)

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