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Article

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

Nature genetics - 1 Jan 2011

Becker-Heck Anita, Zohn Irene E, Okabe Noriko, Pollock Andrew, Lenhart Kari Baker, Sullivan-Brown Jessica, McSheene Jason, Loges Niki T, Olbrich Heike, Haeffner Karsten, Fliegauf Manfred, Horvath Judith, Reinhardt Richard, Nielsen Kim G, Marthin June K, Baktai Gyorgy, Anderson Kathryn V, Geisler Robert, Niswander Lee, Omran Heymut, Burdine Rebecca D

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous autosomal recessive disorder characterized by recurrent infections of the respiratory tract associated with the abnormal function of motile cilia. Approximately half of individuals with PCD also have alterations in the left-right organization of their internal organ positioning, including situs inversus and situs ambiguous (Kartagener's syndrome)....

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Source

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Identifiers

PMID: 21131974
DOI: 10.1038/ng.727
PMCID: PMC3132183

Genes

CCDC40
CCDC39

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.Semantic proximity Read ↗

Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.Semantic proximity Read ↗

Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.Semantic proximity Read ↗

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.Semantic proximity Read ↗

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.Semantic proximity Read ↗

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.Semantic proximity Read ↗

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.Semantic proximity Read ↗

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.Semantic proximity Read ↗

Functional loss of Ccdc1 51 leads to hydrocephalus in a mouse model of primary ciliary dyskinesiaSemantic proximity Read ↗

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.Semantic proximity Read ↗

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.Semantic proximity Read ↗

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.Semantic proximity Read ↗

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