Aliases for CEP120 Gene
External Ids for CEP120 Gene
Previous HGNC Symbols for CEP120 Gene
Previous GeneCards Identifiers for CEP120 Gene
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. [provided by RefSeq, Oct 2009]
GeneCards Summary for CEP120 Gene
CEP120 (Centrosomal Protein 120) is a Protein Coding gene. Diseases associated with CEP120 include Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly and Joubert Syndrome With Ocular Anomalies. GO annotations related to this gene include protein C-terminus binding.
UniProtKB/Swiss-Prot for CEP120 Gene
Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity).