DNAAF11
Chr 8ARdynein axonemal assembly factor 11
Also known as: CILD19, LRRC6, LRTP, TSLRP, tilB
The protein is involved in dynein arm assembly and transports outer dynein arm proteins from the cytoplasm to cilia, making it crucial for ciliary motility and sperm flagella formation. Mutations cause primary ciliary dyskinesia-19, a condition affecting respiratory function, fertility, and organ positioning due to defective ciliary motility. This follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
RECRUITINGEffects of Gender-Affirming Hormone Therapy on Cardiovascular, Metabolic, and Mental Health Outcomes in Transgender Adults.
NOT YET RECRUITING" Development of Primary Cultures of Diaphragmatic Myoblasts for Basic Research Purposes "
NOT YET RECRUITINGCystinosis and Mitochondrial Metabolism
NOT YET RECRUITINGEvolution of Metabolic and Immune Dysfunction in In-transit Melanoma
RECRUITINGFemale Fertility, Environmental Agents and Stress Oxidant
RECRUITINGVITAL: Vaccination, Immunity, Time-restricted Eating, Aging and Lifestyle
RECRUITINGEvaluating the Impact of GLP-1 Receptor Agonists With Total Neoadjuvant Therapy in Rectal Cancer
NOT YET RECRUITINGNo open access results found
External Resources
Links to major genomics databases and tools