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.

WB 1:500 - 1:2000

Recombinant fusion protein containing a sequence corresponding to amino acids 950-1050 of human CEP290 (NP_079390.3).

Unmodified

Store at -20°. Avoid freeze / thaw cycles.