CFAP184

Chr 4

cilia and flagella associated protein 184

Also known as: CCDC96

NCBI Gene: 257236 ENSG00000173013 UniProt: Q2M329 OMIM: 619347

CFAP184 encodes a protein that regulates ciliary beating by connecting radial spoke 3 to inner dynein arms and the nexin-dynein regulatory complex within the ciliary axoneme. Mutations cause primary ciliary dyskinesia, a disorder affecting the respiratory tract, fertility, and laterality determination with typical onset in early childhood. Primary ciliary dyskinesia follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in cilium assembly. Predicted to be located in centrosome and cilium. Predicted to be active in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Jun 2026]

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)