Entrez gene ID | | 80184 |
Official gene symbol | | CEP290 |
Full name | | centrosomal protein 290kDa |
Aliases | | ,3H11Ag,BBS14,CT87,FLJ13615,FLJ21979,JBTS5,JBTS6,KIAA0373,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16, |
Gene summary | | 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] |
Location | | Chromosome: 12 Locus: 12q21.32 |
Gene position | | 88535993 - 88442790 Map Viewer |
Gene orientation | | minus |
Gene size | | 93204 bp |
Gene sequence |
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OMIM ID | | 610142 |
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