Gene Symbol | CCDC40 |
Entrez Gene ID | 55036 |
Full Name | coiled-coil domain containing 40 |
Synonyms | CILD15,FAP172 |
General protein information |
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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) |