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CCDC40 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CCDC40 gene

The CCDC40 gene is essential for the assembly of structures that allow cilia and flagella to move, playing a critical role in respiratory and reproductive health.

Normal Function

The CCDC40 gene provides instructions for making a protein that is involved in the assembly of a larger group of proteins (a complex) called dynein. Dynein functions within cell structures called cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Flagella are similar to cilia, but flagella are found only in sperm cells. Dynein makes up the structures (arms) that produce the force needed for cilia and flagella to move.

Dynein forms structures known as inner dynein arms (IDAs) and outer dynein arms (ODAs) within the core of cilia and flagella (the axoneme). Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. The CCDC40 protein is necessary for the proper assembly of the IDAs, which play a central role in the coordinated movement of cilia and flagella.

Researchers suspect that the CCDC40 protein is also involved in the proper assembly of the nexin-dynein regulatory complex, which helps regulate and coordinate the activity of the inner and outer dynein arms. By helping with the assembly of both the IDAs and the nexin-dynein regulatory complex, the CCDC40 protein plays a central role in the coordinated movement of cilia and flagella.

Health Conditions Related to Genetic Changes

Primary ciliary dyskinesia

Variants (also called mutations) in the CCDC40 gene have been found to cause primary ciliary dyskinesia, which is characterized by respiratory tract infections, abnormally positioned internal organs, and difficulties having biological children (decreased fertility). The variants in the CCDC40 gene that are associated with primary ciliary dyskinesia cause cells to produce fewer functional CCDC40 proteins. The lack of functional CCDC40 protein impairs the assembly of the IDAs and the nexin-dynein regulatory complex, both of which are necessary for the coordinated back and forth movement of cilia. The disruption of the movement of cilia leads to the various signs and symptoms of primary ciliary dyskinesia.

Frequently Asked Questions

Diagnosis typically involves a combination of clinical evaluation and specialized testing. Key tests include high-speed video microscopy to observe ciliary beat frequency and pattern, nasal nitric oxide measurement (which is usually very low in PCD), and genetic testing to identify variants in the CCDC40 gene. A bronchoalveolar lavage may also be performed to examine ciliary structure under an electron microscope.
CCDC40 mutation disrupts the assembly of inner dynein arms, causing cilia in the respiratory tract to be immobile or move improperly. This prevents the clearance of mucus and bacteria, leading to recurrent respiratory infections. Early warning signs in infants often include persistent wet or gurgly breathing, chronic cough, and frequent ear or sinus infections that do not resolve with standard antibiotic treatment.
Many individuals with CCDC40-related PCD can lead active lives with proper management. The long-term prognosis depends on the severity of lung damage. With early diagnosis and aggressive airway clearance techniques, regular monitoring, and prompt treatment of infections, lung function can be preserved. However, some patients may develop bronchiectasis (permanent widening of airways) or chronic lung disease over time, requiring ongoing respiratory care.
Yes, CCDC40 mutations can significantly impact male fertility because the gene is also required for the proper assembly of flagella in sperm cells. Defective flagella result in immotile or poorly motile sperm, which can lead to subfertility or infertility in men. Women with the condition are generally fertile, though they may have an increased risk of ectopic pregnancy due to impaired fallopian tube cilia function.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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