Product overview
Description Anti-CEP290 rabbit polyclonal antibody
Applications ELISA, IHC
Immunogen Fusion protein of human CEP290
Reactivity Human, Mouse
Content 0.5 mg/ml
Host species Rabbit
Ig class Immunogen-specific rabbit IgG
Purification Antigen affinity purification
Target information
Symbol CEP290
Full name centrosomal protein 290
Synonyms CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag
Swissprot O15078
Target Background
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 nephronophthisi and the presence of antibodies against this protein is associated with several forms of cancer.