DNAAF6

Chr X

dynein axonemal assembly factor 6

Also known as: CILD36, CXorf41, NYSAR97, PIH1D3, TWISTER

NCBI Gene: 139212 ENSG00000080572 UniProt: Q9NQM4

DNAAF6 encodes a protein that enables dynein intermediate chain binding and is involved in cytoplasmic pre-assembly of axonemal dynein, which is essential for inner and outer dynein arm assembly in cilia and flagella. Mutations cause primary ciliary dyskinesia 36, an X-linked recessive disorder affecting respiratory tract function and sperm motility. The gene shows high constraint against loss-of-function variants (pLI 0.86, LOEUF 0.47), indicating intolerance to protein-disrupting mutations.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCiliary dyskinesia, primary, 36, X-linked

Clinical highlights

Gene-disease validity (ClinGen)

ciliary dyskinesia, primary, 36, X-linked · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.47

LOEUF

LOF

Mechanism· G2P

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GeneReview available — DNAAF6