CEP290 polyclonal antibody
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More Files
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Specification
Product Description
Goat polyclonal antibody raised against synthetic peptide of CEP290.
Immunogen
A synthetic peptide corresponding to human CEP290.
Sequence
C-QSGAESTIPDADQ
Host
Goat
Theoretical MW (kDa)
290
Form
Liquid
Purification
Antigen affinity purification
Concentration
0.5 mg/mL
Quality Control Testing
Antibody Reactive Against Synthetic Peptide.
Recommend Usage
ELISA (1:8000)
The optimal working dilution should be determined by the end user.Storage Buffer
In Tris saline, pH 7.3 (0.5% BSA, 0.02% sodium azide)
Storage Instruction
Store at -20°C.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Enzyme-linked Immunoabsorbent Assay
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Gene Info — CEP290
Entrez GeneID
80184Protein Accession#
NP_079390.3Gene Name
CEP290
Gene Alias
3H11Ag, BBS14, FLJ13615, FLJ21979, JBTS5, JBTS6, KIAA0373, LCA10, MKS4, NPHP6, SLSN6, rd16
Gene Description
centrosomal protein 290kDa
Gene Ontology
HyperlinkGene Summary
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
Other Designations
CTCL tumor antigen se2-2|monoclonal antibody 3H11 antigen|nephrocytsin-6|prostate cancer antigen T21
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Interactome
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Disease
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Publication Reference
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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR.
PNAS 2007 Oct; 104(40):15917.
Application：IHC-Fr, IP, WB, Mouse, Mouse olfactory epithelium.
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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
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