Aliases for CEP83 Gene
External Ids for CEP83 Gene
Previous HGNC Symbols for CEP83 Gene
Previous GeneCards Identifiers for CEP83 Gene
The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
GeneCards Summary for CEP83 Gene
CEP83 (Centrosomal Protein 83) is a Protein Coding gene. Diseases associated with CEP83 include Nephronophthisis 18 and Infantile Nephronophthisis. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is LRRC45.
UniProtKB/Swiss-Prot Summary for CEP83 Gene
Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.