CCDC40

Chr 17AR

coiled-coil domain 40 molecular ruler complex subunit

Also known as: CFAP172, CILD15, FAP172

NCBI Gene: 55036 ENSG00000141519 UniProt: Q4G0X9 OMIM: 613799

The protein is required for assembly of dynein regulatory complexes and inner dynein arm complexes that control ciliary beat regulation, playing a central role in motile cilia and flagella function. Mutations cause primary ciliary dyskinesia type 15, a disorder affecting respiratory tract clearance, fertility, and organ lateralization due to defective cilia motility. This condition follows autosomal recessive inheritance and typically presents in early childhood with chronic respiratory symptoms.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 15MIM #613808

Clinical highlights

Gene-disease validity (ClinGen)

primary ciliary dyskinesia 15 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CCDC40