XB-GENEPAGE-986683
???displayGene.symbol???:
ccdc40
???displayGene.name???:
coiled-coil domain 40 molecular ruler complex subunit
???displayGene.synonyms???
LOC108648942
,
LOC108702701
(
Nomenclature history )
???displayGene.geneFunction???
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. In humans, mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility.
AI Protein Function 
:
:
ccdc40 encodes a coiled‑coil domain containing protein that acts as a cytoplasmic factor required for assembly of inner dynein arms in motile cilia; the protein localizes to basal bodies and the ciliar...[+]
InterPro :
:???displayGene.geneInteractants???
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Diseases:
Disease Ontology:
Kartagener syndrome
MIM:
CILIARY DYSKINESIA, PRIMARY, 15; CILD15
External Links:
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