Product Datasheet
CEP290 Antibody
Catalog Number: 46475
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:O15078
NCBI Gene ID:80184
NCBI Protein:BC008641
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Synthetic protein corresponding to internal residues of human CEP290
- appl_detail:
Immunohistochemistry: 1: 25-100
- other_names:
- CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag
- Purification:
- Antigen affinity purification
- Specificity:
- The antibody detects endogenous levels of total CEP290 protein.
- 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.
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