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.

Pack Size

100ul, 1ml, 20ul

Applications

ELISA, WB

Host Species

Rabbit

Ig Isotype

IgG

Antibody Type

Polyclonal Antibody

Organism Species

Human

Product Synonyms

CEP290

Observed Mol Wt

290kDa

Alternative Names

CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag; CEP290

Immunogen (Antigen)

Recombinant protein

Format

Liquid

Buffer Formulation

50% glycerol, PBS with 0.01% thimerosal, pH7.3

Reactivity

Human

Uniprot ID

80184

Gene ID

O15078

Purification

Antigen-specific affinity chromatography followed by Protein A affinity chromatography

Usage

For Research Use Only. Not for diagnostics or human use.

Shelf Life

12 months at time of shipping

Shipping

Shipped in Dry Ice at -20 Degree Celsius

Storage

Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody.

Research Areas

Neuroscience

Disclaimer

The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use.

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