CEP192

Chr 18

centrosomal protein 192

ENSG00000101639 UniProt: Q8TEP8 OMIM: 616426

CEP192 encodes a centrosome protein required for mitotic centrosome maturation, bipolar spindle assembly, and serves as an activating scaffold for key mitotic kinases AURKA and PLK1. Mutations cause autosomal recessive primary microcephaly with onset apparent at birth, reflecting the gene's critical role in proper cell division during brain development. This gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:17980596, PubMed:18207742, PubMed:25042804). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:17980596, PubMed:18207742, PubMed:25042804). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804)

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.60

LOEUF

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Mechanism

Some data sources returned errors (1)