Nephrocystin 6 (NPHP6)

Centrosomal protein of 290 kDa is 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 recently with a frequent form of Leber"""s Congenital Amaurosis, called LCA10. The presence of antibodies against this protein is associated with several forms of cancer.