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 120kDa) is a Protein Coding gene. Diseases associated with CEP120 include short-rib thoracic dysplasia 13 with or without polydactyly and asphyxiating thoracic dystrophy. 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. May play a role in centriole duplication during mitosis (By similarity).