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CCDC40 encodes a protein that is necessary for motile cilia function. Additionally we are shipping CCDC40 Antibodies (17) and CCDC40 Kits (12) and many more products for this protein.
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Lung disease was worse in those with IDA (show IDUA Proteins)/CA/MTD (show MT1E Proteins) ultrastructural defects, most of whom had biallelic mutations in ccdc40.
This study shows that CCDC39 and CCDC40 mutations are the major cause of Primary ciliary dyskinesia in patients with the previously termed "radial spoke defect".
Aiming to delineate the CCDC39/CCDC40 mutation spectrum and associated phenotypes, a large cohort of patients with IDA defects were screened. Biallelic CCDC39 or CCDC40 mutations were identified in 30/34 unrelated families with IDA defects.
CCDC40 mutations in humans result in a variant of primary ciliary dyskinesia characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes.
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants.
coiled-coil domain-containing protein 40
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