CCDC39

Chr 3AR

coiled-coil domain 39 molecular ruler complex subunit

Also known as: CFAP59, CILD14, FAP59

NCBI Gene: 339829 ENSG00000284862 UniProt: Q9UFE4 OMIM: 613798

The protein is required for assembly of dynein regulatory and inner dynein arm complexes that regulate ciliary beat, playing a central role in cilia and flagella motility. Mutations cause primary ciliary dyskinesia type 14, an autosomal recessive disorder affecting the respiratory system, fertility, and other ciliated organs. This gene is not highly constrained against loss-of-function variants.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 14MIM #613807

Clinical highlights

Gene-disease validity (ClinGen)

primary ciliary dyskinesia 14 · 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)

—

P/LP submissions

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P/LP missense

0.75

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CCDC39