CEP20

Chr 16

centrosomal protein 20

Also known as: C16orf63, FOPNL, FOR20, PHSECRG2

NCBI Gene: 123811 ENSG00000133393 UniProt: Q96NB1 OMIM: 617149

CEP20 encodes a protein that enables identical protein binding and is involved in cilium assembly and centrosome function, specifically recruiting PLK1 to centrosomes for S phase progression. Mutations cause Joubert syndrome, a ciliopathy characterized by cerebellar vermis hypoplasia, developmental delays, and other neurological features, following an autosomal recessive inheritance pattern. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF 1.624), consistent with recessive disease mechanisms.

OMIM ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Involved in cilium assembly. Located in centriolar satellite. [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

1.62

LOEUF

Mechanism· predicted