Gene Symbol | CEP290 |
Entrez Gene ID | 80184 |
Full Name | centrosomal protein 290 |
Synonyms | 3H11Ag,BBS14,CT87,JBTS5,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 5, 610188 (3); Senior-Loken syndrome 6, 610189 (3); Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3); ?Bardet-Biedl syndrome 14, 615991 (3) |