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CEP120 encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. Additionally we are shipping CEP120 Antibodies (22) and and many more products for this protein.
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The loss of Talpid3-binding centrosomal protein Cep120 results in failed centriole duplication and consequently ciliogenesis, which together underlie Cep120 mutant cerebellar hypoplasia.
Cep120 is required for centriole assembly and that the observed defect in neuronal migration might derive from a defect in this process.
The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses.
We establish a novel locus for Jeune asphyxiating thoracic dystrophy on 5q23.2 by linkage analysis and demonstrate that a mutation in CEP120 within this locus is the most likely cause of the disease.
CEP120 associates with SPICE1 and CPAP, and depletion of any of these proteins results in short procentrioles. Furthermore, CEP120 or CPAP overexpression results in excessive centriole elongation, a process dependent on CEP120, SPICE1, and CPAP.
CEP120 is a CPAP-interacting protein that positively regulates centriole elongation.
Functional characterization of the homologous mouse gene, and comparison to the human protein.
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants.
centrosomal protein of 120 kDa
, coiled-coil domain containing 100
, coiled-coil domain-containing protein 100