CFAP263

Chr 16

cilia and flagella associated protein 263

Also known as: CCDC113, HSPC065

NCBI Gene: 29070 ENSG00000103021 UniProt: Q9H0I3 OMIM: 616070

CFAP263 encodes a component of centriolar satellites that is essential for primary cilium formation and acts as a regulator connecting radial spoke 3 to inner dynein arms in motile cilia. Mutations cause primary ciliary dyskinesia, a disorder affecting respiratory tract clearance, fertility, and organ positioning that typically presents in early childhood with chronic respiratory symptoms. Primary ciliary dyskinesia follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

Involved in cilium assembly. Located in centriolar satellite and ciliary basal body. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)