Gene: CCDC40

Alternate names for this Gene: CFAP172|CILD15|FAP172

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: coiled-coil domain containing 40

Type of Gene: protein-coding

rs370706991 in CCDC40 gene and CILIARY DYSKINESIA, PRIMARY, 15 PMID 22693285 2012 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

PMID 22499950 2012 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

PMID 21131974 2011 The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

rs1346603171 in CCDC40 gene and Ciliary Motility Disorders PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

PMID 22693285 2012 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

PMID 21131974 2011 The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

PMID 22499950 2012 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 25619595 2016 CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.