{"symbol":"CEP290","synonyms":["CT87","LCA10","POC3","BBS14","MKS4","3H11AG","SLSN6","NPHP6","RD16","JBTS5"],"name":"centrosomal protein 290kDa","description":"This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":80184,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/80184","proteins":[{"symbol":"CE290_HUMAN","href":"/api/1.0/protein/CE290_HUMAN"}],"hgncRootFamilies":[]}