基因名称：CEP290 （centrosomal protein 290）
别名： CT87,MKS4,POC3,rd16,BBS14,JBTS5,LCA10,NPHP6,SLSN6,3H11Ag
基因ID：80184
Chromosome(GRCh37) ：12 Start: 88442790 End: 88535993 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码一个具有13个假定的卷曲螺旋结构域、一个与平滑肌细胞染色体分离ATP酶同源的区域、6个KID基序、3个原肌球蛋白同源结构域和一个ATP/GTP结合位点基序a的蛋白质。该蛋白质定位于中心体和纤毛，具有N-糖基化、酪氨酸硫酸化、磷酸化位点N-肉豆蔻酰化和酰胺化。这种基因的突变与joubert综合征和肾结核有关，而抗这种蛋白的抗体的存在与几种癌症有关。[由RefSeq提供，2008年7月]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]
CEP290突变与药物：
