CCDC68

Chr 18

coiled-coil domain containing 68

Also known as: SE57-1

NCBI Gene: 80323 ENSG00000166510 UniProt: Q9H2F9

The CCDC68 protein is required for centriole subdistal appendage assembly and microtubule anchoring at the centrosome during interphase. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay. This gene shows moderate constraint against loss-of-function variants, and the associated phenotypes typically manifest in early infancy with severe neurodevelopmental impairment.

ResearchSummary from RefSeq, UniProt

Involved in microtubule anchoring at centrosome and protein localization. Located in centriole. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.41

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429