Aliases for CEP250 Gene
External Ids for CEP250 Gene
Previous HGNC Symbols for CEP250 Gene
Previous GeneCards Identifiers for CEP250 Gene
This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
GeneCards Summary for CEP250 Gene
CEP250 (Centrosomal Protein 250) is a Protein Coding gene. Diseases associated with CEP250 include Cone-Rod Dystrophy And Hearing Loss 2 and Usher Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein C-terminus binding. An important paralog of this gene is CROCC.
UniProtKB/Swiss-Prot Summary for CEP250 Gene
May be involved in ciliogenesis (PubMed:28005958). Probably plays an important role in centrosome cohesion during interphase.