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Summary Expression Phenotypes Gene Literature (8) GO Terms (28) Nucleotides (45) Proteins (18) Interactants (218) Wiki
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 :
The ccdc40 protein contains coiled-coil domains and localizes to motile cilia. It functions in ciliogenesis and is required for the proper left-right patterning of the embryo; mutations lead to defects...[+]


InterPro :
CCDC40

???displayGene.geneInteractants???
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Diseases: 


Disease Ontology:
Kartagener syndrome [+]

MIM:
CILIARY DYSKINESIA, PRIMARY, 15; CILD15

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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