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

3H11AG;
Bardet-Biedl syndrome 14 protein;
BBS14;
Cancer/testis antigen 87;
CE290_HUMAN;
Centrosomal protein 290kDa;
Centrosomal protein of 290 kDa;
Cep290;
CT87;
CTCL tumor antigen se2 2;
FLJ13615;
FLJ21979;
JBTS5;
JBTS6;
KIAA0373;
LCA10;
Meckel syndrome, type 4;
MKS4;
Monoclonal; 3H11 antigen;
Nephrocystin 6;
Nephrocystin-6;
NPHP6;
POC3;
POC3 centriolar protein homolog;
Prostate cancer antigen T21;
rd16;
SLSN6 1, 2, 5;
SLSN6;
Tumor antigen se2-2.

Mouse,Human,Rat,Dog,Cow,Horse,Sheep

IHC,IF,ICC

IHC 1:100-500
IF 1:100-500
ICC 1:100-1:400

291kD

80184

O15078

https://www.uniprot.org/uniprotkb/O15078

Cytoplasm > cytoskeleton > centrosome. Nucleus. Cell projection > cilium. Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells.

Ubiquitous. Expressed strongly in placenta and weakly in brain.

KLH conjugated synthetic peptide derived from human CEP290

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.