CCDC40, Official Symbol CCDC40provided by HGNC Official Full Name coiled-coil domain containing 40provided by HGNC Primary source HGNC:HGNC:26090 See related Ensembl:ENSG00000141519 MIM:613799; AllianceGenome:HGNC:26090 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CILD15; FAP172; CFAP172 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] Expression Broad expression in testis (RPKM 4.5), lung (RPKM 1.1) and 14 other tissues See more Orthologs mouse all