Gene Symbol | CCDC39 |
Entrez Gene ID | 339829 |
Full Name | coiled-coil domain containing 39 |
Synonyms | CILD14,FAP59 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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). [provided by RefSeq, Jul 2011]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 14, 613807 (3) |