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The protein encoded by CCDC39 is involved in the motility of cilia and flagella. Additionally we are shipping CCDC39 Antibodies (36) and and many more products for this protein.
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Lung disease was worse in those with IDA (show IDUA ELISA Kits)/CA/MTD (show MT1E ELISA Kits) ultrastructural defects, most of whom had biallelic mutations in ccdc39.
This study shows that CCDC39 and CCDC40 (show CCDC40 ELISA Kits) 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.
Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex.
Ccdc39 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
FAP59 forms a complex with FAP172, and serves as a molecular ruler for the axonemal 96-nm repeat structures. [FAP59]
The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14).
coiled-coil domain containing 39
, coiled-coil domain-containing protein 39
, Coiled-coil domain-containing protein 39