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CCDC40

Official Full Name
coiled-coil domain 40 molecular ruler complex subunit
Organism
Homo sapiens
GeneID
55036
Background
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]
Synonyms
CILD15; FAP172; CFAP172;

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