DNAAF6

Chr XXLR

dynein axonemal assembly factor 6

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

NCBI Gene: 139212ENSG00000080572UniProt: 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.

Summary from RefSeq, OMIM, UniProt
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Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 36, X-linkedMIM #300991
XLR
0
Active trials
3
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.47
LOEUF
LOF
Mechanism· G2P
Clinical Summary— DNAAF6
🧬
Gene-Disease Validity (ClinGen)
ciliary dyskinesia, primary, 36, X-linked · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.86) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.47LOEUF
pLI 0.855
Z-score 2.33
OE 0.00 (0.00–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.48Z-score
OE missense 0.84 (0.68–1.04)
57 obs / 68.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.47)
0≤0.351.4
Missense OE0.84 (0.68–1.04)
0≤0.61.4
Synonymous OE1.22
0≤1.21.6
LoF obs/exp: 0 / 6.3Missense obs/exp: 57 / 68.0Syn Z: -0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DNAAF6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia.
Long Y et al.·Front Genet
2025Open AccessCase report
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L et al.·J Med Genet
2024
The binding of LARP6 and DNAAF6 in biomolecular condensates influences ciliogenesis of multiciliated cells.
Earwood R et al.·J Biol Chem
2024Open Access
Strongly Truncated Dnaaf4 Plays a Conserved Role in Drosophila Ciliary Dynein Assembly as Part of an R2TP-Like Co-Chaperone Complex With Dnaaf6.
Lennon J et al.·Front Genet
2022Open Access
Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
Wang Y et al.·J Assist Reprod Genet
2020
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients