CCP110

Chr 16

centriolar coiled-coil protein 110

Also known as: CP110, Cep110

NCBI Gene: 9738 ENSG00000103540 UniProt: O43303 OMIM: 609544

CCP110 encodes a protein necessary for centrosome duplication and acts as a key negative regulator of ciliogenesis by capping the mother centriole to prevent cilia formation, while also being required for correct spindle formation and cytokinesis regulation. The gene is highly constrained against loss-of-function variants (LOEUF 0.454), suggesting that mutations are likely to cause severe developmental phenotypes. Pathogenic variants are expected to follow an autosomal dominant inheritance pattern given the gene's critical cellular functions and constraint metrics.

OMIM ResearchSummary from RefSeq, UniProt

Involved in centriole replication; negative regulation of cilium assembly; and regulation of cytokinesis. Located in centriole and centrosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.45

Clinical Summary— CCP110

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.

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