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CCDC151
outer dynein arm docking complex subunit 3
CCDC151 is located on the short (p) arm of chromosome 19, at band 19p13.2. Arm ratio per GRCh38 - banding schematic.
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Clinical tests that include this
Overview
CCDC151 encodes a protein that forms part of the outer dynein arm docking complex, a structural assembly essential for attaching dynein motor proteins to the microtubule scaffold within motile cilia. Cilia are hair-like projections on cell surfaces that beat in coordinated waves to move fluid and particles. In the respiratory tract, ciliary beating clears mucus and trapped pathogens from the airways, whilst during embryonic development, ciliary motion establishes left-right body asymmetry.
When both copies of CCDC151 carry pathogenic variants, the outer dynein arms fail to attach properly, rendering cilia immotile or severely dysfunctional. This results in primary ciliary dyskinesia, a condition characterised by chronic respiratory infections, bronchiectasis, and laterality defects such as situs inversus. The gene follows an autosomal recessive inheritance pattern, meaning affected individuals inherit one altered copy from each parent.
What the gene does
The CCDC151 protein localises to the axoneme, the internal structure of cilia and flagella composed of nine microtubule doublets arranged around a central pair. Within this architecture, CCDC151 functions as a docking complex subunit that tethers outer dynein arms to the A-tubule of each doublet. Outer dynein arms are multi-protein assemblies containing heavy, intermediate, and light chain dyneins that generate the sliding force between adjacent microtubules, producing the ciliary beat.
Without functional CCDC151, the outer dynein arm complexes remain in the cytoplasm and cannot integrate into the ciliary axoneme. Transmission electron microscopy of respiratory epithelial cilia from individuals with CCDC151 variants typically shows complete absence of outer dynein arms along the length of the axoneme. This structural defect abolishes the power stroke of the ciliary beat, leaving only residual movement from inner dynein arms, which is insufficient for effective mucociliary clearance. The protein therefore plays a non-redundant role in ciliary assembly, and its loss cannot be compensated by other docking complex components.
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Chromosome location
CCDC151 is located on the short arm of chromosome 19 at cytogenetic band 19p13.2. This chromosomal region contains a cluster of genes involved in ciliary structure and function. The gene spans approximately 35 kilobases of genomic DNA and comprises multiple exons encoding a 595-amino acid protein.
Protein structure
The CCDC151 protein consists of 595 amino acids with a characteristic domain organisation suited to its structural role. The N-terminal region from amino acids 1 to 69 is disordered, likely providing flexibility for protein-protein interactions within the docking complex. The central and C-terminal portions contain two extended coiled-coil domains: one spanning amino acids 94 to 327 and a second from amino acids 385 to 473. Coiled-coil motifs are hallmarks of structural proteins, allowing CCDC151 to form stable rod-like assemblies that bridge outer dynein arms to the axonemal microtubules. These extended coiled-coil regions mediate interactions with other docking complex subunits and provide the structural rigidity necessary to anchor the heavy dynein motor complexes during the ciliary beat cycle.
Key variants
Pathogenic variants in CCDC151 are distributed throughout the coding sequence, with no single predominant mutation hotspot identified. Reported variants include nonsense mutations that introduce premature stop codons, frameshift deletions or insertions that disrupt the reading frame, and splice-site alterations that lead to aberrant mRNA processing. Missense changes affecting conserved residues within the coiled-coil domains can also impair protein stability or docking function. The functional consequence of most pathogenic variants is loss of CCDC151 protein expression or production of a truncated polypeptide incapable of participating in outer dynein arm assembly.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Biallelic pathogenic variants in CCDC151 cause primary ciliary dyskinesia, a genetically heterogeneous disorder affecting ciliary motility. Clinical features typically emerge in early childhood and include chronic wet cough, recurrent upper and lower respiratory tract infections, chronic rhinosinusitis, and progressive bronchiectasis due to impaired mucociliary clearance. Approximately half of affected individuals exhibit situs inversus or other laterality defects, reflecting the role of nodal cilia in establishing left-right asymmetry during embryogenesis. Male infertility due to immotile sperm flagella and hearing impairment from middle ear effusions are additional recognised manifestations. Symptom severity and progression vary among individuals, influenced by the nature of the variants, environmental exposures, and access to respiratory management.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic CCDC151 variants typically follow autosomal recessive inheritance.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
UK clinical status
CCDC151 is included on several NHS Genomic Medicine Service gene panels reflecting its role in ciliary disorders and developmental anomalies. The gene holds green classification on the Primary Ciliary Disorders panel and the Respiratory Ciliopathies Including Non-CF Bronchiectasis panel (R189), indicating strong evidence for its causative role in these conditions. It also appears on the Laterality Disorders and Isomerism panel (R139) and the Fetal Anomalies panel (R21), recognising its contribution to abnormal organ positioning detectable prenatally or at birth. Green status on the DDG2P panel confirms CCDC151 as a validated developmental disorder gene, supporting its use in diagnostic genomic testing within the NHS.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
How is CCDC151-related primary ciliary dyskinesia inherited?
CCDC151-related primary ciliary dyskinesia follows an autosomal recessive inheritance pattern. An individual must inherit one pathogenic variant from each parent to develop the condition. Parents who each carry one altered copy typically do not show symptoms.
Can CCDC151 variants be detected through carrier screening?
Yes, CCDC151 is included on pulmonary carrier screening panels. Carrier screening can identify individuals who carry one pathogenic variant, which is relevant for family planning and reproductive decision-making, particularly when both partners are carriers.
What does a CCDC151 variant mean for respiratory health?
Individuals with biallelic pathogenic CCDC151 variants typically experience chronic respiratory symptoms due to impaired ciliary clearance of mucus. Management focuses on airway clearance techniques, prompt treatment of infections, and monitoring for bronchiectasis progression through regular clinical review.