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Synonyms
CCDC100 antibody; CE120_HUMAN antibody; Centrosomal protein of 120 kDa antibody; Cep120 antibody; Coiled-coil domain-containing protein 100 antibody
CEP120 plays a crucial role in microtubule-dependent coupling of the nucleus and the centrosome. It is involved in regulating centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and ensuring proper positioning of neurons during brain development. Additionally, CEP120 is implicated in the migration and self-renewal of neural progenitors. It is essential for centriole duplication and maturation during mitosis and subsequent ciliogenesis. During early S phase, CEP120 is required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall in a PLK4-dependent manner.
Gene References Into Functions
The CEP120-associated phenotype exhibits a spectrum of severity, ranging from mild classical Jeune asphyxiating thoracic dystrophy in four patients to more severe conditions in two fetuses. PMID: 27208211
Our research established a novel locus for Jeune asphyxiating thoracic dystrophy on 5q23.2 through linkage analysis, and demonstrated that a mutation in CEP120 within this locus is the most probable cause of the disease. PMID: 25361962
This study involved functional characterization of the homologous mouse gene and comparison to the human protein. PMID: 17920017