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The CCDC114 gene, located on chromosome 19, encodes a protein that is a key component of the structure and function of cilia, which are hair-like organelles present on the surface of many cell types. Structurally, CCDC114 belongs to the coiled-coil domain-containing family, which plays crucial roles in cellular organizations and motility. Functionally, CCDC114 is involved in forming the outer dynein arm of cilia, essential for their motility. Mutations in CCDC114 can lead to defects in ciliary structure, resulting in primary ciliary dyskinesia (PCD), a condition characterized by chronic respiratory tract infections, abnormal organ positioning, and other symptoms. Specifically, mutations like c.742G>A and c.584T>C have been identified to cause variant forms of PCD, as well as situs inversus, which is a complete mirror image reversal of the body's internal organ arrangement. Genetic investigations have shown that these mutations can significantly disrupt the function of cilia, confirming CCDC114's critical role in human ciliopathies.
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Protein Aliases: Coiled-coil domain-containing protein 114; Outer dynein arm-docking complex subunit 1
Gene Aliases: CCDC114; CILD20; ODAD1
UniProt ID: (Human) Q96M63
Entrez Gene ID: (Human) 93233
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