CCDC40 (gene)

CCDC40 (Coiled-Coil Domain Containing 40) is a gene that encodes a protein involved in the structure and function of cilia. Mutations in this gene have been associated with primary ciliary dyskinesia, a rare genetic disorder that impairs the function of cilia in the lungs, ears, and sinuses, leading to chronic respiratory infections, hearing loss, and infertility.

Structure

The CCDC40 gene is located on the long (q) arm of chromosome 17 at position 13.3. It spans a length of approximately 79.6 kilobases and comprises 28 exons. The encoded protein is 1142 amino acids long with a predicted molecular weight of approximately 130 kilodaltons.

Function

The protein encoded by the CCDC40 gene is a component of the axoneme, the core structure of cilia and flagella. It plays a crucial role in the assembly and maintenance of the inner dynein arms, which are essential for the normal motility of cilia and flagella. The protein is also involved in the regulation of ciliary beat frequency and waveform.

Clinical Significance

Mutations in the CCDC40 gene cause a form of primary ciliary dyskinesia (PCD), known as PCD with normal ultrastructure or PCD type 3. This condition is characterized by recurrent respiratory infections, bronchiectasis, situs inversus, and male infertility. The diagnosis of PCD is confirmed by genetic testing, including sequencing of the CCDC40 gene.

Research

Research on the CCDC40 gene and its associated protein has provided valuable insights into the molecular mechanisms underlying ciliary function and the pathogenesis of PCD. Further studies are needed to fully understand the role of this gene in health and disease.

Location of the CCDC40 gene on chromosome 17.

See Also

• Primary ciliary dyskinesia
• Cilia
• Chromosome 17
• Exon
• Axoneme

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