Form
Liquid
Buffer
PBS, 150mM NaCl, 50% Glycerol
Preservative
0.02% Sodium azide
Storage
Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Concentration
Batch dependent (Please refer to the vial label for the specific concentration.)
Antigen Species
Human
Immunogen
The antiserum was produced against synthesized peptide derived from human CEP290 (771-820).
Purification
Purified by antigen-affinity chromatography
From serum
Conjugation
Unconjugated
Note
For laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
Synonyms
3H11Ag , BBS14 , CEP290 , CT87 , JBTS5 , LCA10 , MKS4 , NPHP6 , POC3 , SLSN6 , centrosomal protein 290 , rd16 , centrosomal protein 290kDa
Cellular Localization
Cytoplasm,Cytoskeleton,Microtubule organizing center,Centrosome,Cytoplasm,Cytoskeleton,Microtubule organizing center,Centrosome,Centriolar satellite,Nucleus,Cell projection,Cilium,Cytoplasm,Cytoskeleton,Cilium basal body,Cytoplasm,Cytoskeleton,Microtubule organizing center,Centrosome,Centriole,Cytoplasmic vesicle
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 nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Database
Research Area