基因名:
cep290
产品别名:
CG13889; Cep290; Dmel\CG13889; Q9W0M1_DROME; cep290; cep290; cep290; CG13889-PA; CG13889-PB; cep290-PA; cep290-PB; 中心体蛋白290;
背景信息:
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