Suvarna Garge (Editor)

CCDC40 (gene)

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Species
  
Human

Entrez
  
55036

Human
  
Mouse

Ensembl
  
ENSG00000141519

Aliases
  
CCDC40, CILD15, FAP172, coiled-coil domain containing 40

External IDs
  
MGI: 2443893 HomoloGene: 27890 GeneCards: CCDC40

Coiled-coil domain containing 40 is a protein that in humans is encoded by the CCDC40 gene.

Function

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].

References

CCDC40 (gene) Wikipedia