| Gene Symbol | CCDC40 |
| Entrez Gene ID | 55036 |
| Full Name | coiled-coil domain containing 40 |
| Synonyms | CILD15,FAP172 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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. [provided by RefSeq, Aug 2011]. |
| Disorder MIM: | |
| Disorder Html: | Ciliary dyskinesia, primary, 15, 613808 (3) |
User Manual