DNAAF11

Chr 8AR

dynein axonemal assembly factor 11

Also known as: CILD19, LRRC6, LRTP, TSLRP, tilB

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 19MIM #614935
AR

Clinical highlights

Gene-disease validity (ClinGen)
primary ciliary dyskinesia 19 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
9
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.08
LOEUF
LOF
Mechanism· G2P
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.23
OE 0.74 (0.511.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.13Z-score
OE missense 1.02 (0.921.14)
243 obs / 237.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.74 (0.511.08)
00.351.4
Missense OE?1.02 (0.921.14)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 19 / 25.7Missense obs/exp: 243 / 237.4Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAAF11 · 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

CystinosisNative Kidney

Cystinosis and Mitochondrial Metabolism

RECRUITING
NCT07319091Phase NAHospices Civils de LyonStarted 2025-12-08
Mitochondrial metabolism
Melanoma

Evolution of Metabolic and Immune Dysfunction in In-transit Melanoma

RECRUITING
NCT04658303Yana NajjarStarted 2021-02-24
Pimonidazole
Porphyria, Acute Intermittent

Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment

RECRUITING
NCT06273644Phase NANordlandssykehuset HFStarted 2024-01-27
Carbohydrates
Female Infertility

Female Fertility, Environmental Agents and Stress Oxidant

RECRUITING
NCT04866329University Hospital, ToursStarted 2021-12-08
Blood sampleUrine sampleFollicular fluid and granulosa cells sample
Transgender Individuals

Effects of Gender-Affirming Hormone Therapy on Cardiovascular, Metabolic, and Mental Health Outcomes in Transgender Adults.

NOT YET RECRUITING
NCT07394400Milagros Rocha BarajasStarted 2026-02-14
Healthy

Tocotrienol Supplementa as A Senolytic Agent in Middle-aged Adults

RECRUITING
NCT07637487Phase NANational University of MalaysiaStarted 2023-10-31
TreatmentPlacebo
Endometriosis

" Development of Primary Cultures of Diaphragmatic Myoblasts for Basic Research Purposes "

NOT YET RECRUITING
NCT07380308Assistance Publique - Hôpitaux de ParisStarted 2026-02-01
During the surgery planned as part of the routine care of the patient, a part of the tissue sample will be saved in order to carry out the analysis planned for the research.
Rectal Cancer PatientsObesity &Amp; OverweightLocally Advanced Rectal Cancer (LARC)

Evaluating the Impact of GLP-1 Receptor Agonists With Total Neoadjuvant Therapy in Rectal Cancer

NOT YET RECRUITING
NCT07314528Phase PHASE2St. James's Hospital, IrelandStarted 2026-04
GLP-1 receptor agonistTotal neoadjuvant therapy (TNT)
VaccinationImmunosenescenceMetabolism

VITAL: Vaccination, Immunity, Time-restricted Eating, Aging and Lifestyle

RECRUITING
NCT07000708Phase NACharite University, Berlin, GermanyStarted 2025-09-10
TRE: Time-restricted eating