CEP72

Chr 5

centrosomal protein 72

NCBI Gene: 55722 ENSG00000112877 UniProt: Q9P209 OMIM: 616475

CEP72 encodes a centrosomal protein that recruits key proteins to the centrosome and provides microtubule-nucleation activity essential for proper spindle formation and centriole duplication. Mutations cause autosomal recessive primary microcephaly and Seckel syndrome, neurodevelopmental disorders characterized by severe intellectual disability, growth retardation, and distinctive facial features with prenatal or early postnatal onset. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.35

LOEUF

Mechanism· predicted