|
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
:
???displayGene.geneInteractants???
Loading ...
Diseases:
Disease Ontology:
Kartagener syndrome
MIM:
CILIARY DYSKINESIA, PRIMARY, 15; CILD15
External Links:
Loading gene data...
Please wait while we fetch the latest information
| ???displayGene.expression??? | Development Stages Embryonic Tissues Adult Tissues | |||||||||||
|
|
|
|||||||||||
| More Information |
|
|||||||||||
Symbol legend:
