Cep290 Gene Search Result

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1 records found for search term Cep290

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1604786	CEP290	centrosomal protein 290	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-glycosylati ... (more) on, 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]	12	88049016	88142088	Human	5016	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]