{"symbol":"CCDC40","synonyms":["CILD15","FAP172"],"name":"coiled-coil domain containing 40","description":"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]","ncbiEntrezGeneId":55036,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55036","proteins":[{"symbol":"CCD40_HUMAN","href":"/api/1.0/protein/CCD40_HUMAN"}],"hgncRootFamilies":[]}