Anti-IKBKAP monoclonal antibody (DMABT-H14026)

Mouse anti-Human IKBKAP monoclonal antibody for WB, IHC, sELISA, ELISA Datasheet

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Specifications


Host Species
Mouse
Antibody Isotype
IgG1
Clone
7H0
Species Reactivity
Human
Immunogen
IKBKAP (NP_003631, 1242 a.a. ~ 1331 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Conjugate
Unconjugated

Target


Alternative Names
IKBKAP; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein; DYS, dysautonomia (Riley Day syndrome, hereditary sensory autonomic neuropathy type III); elongator complex protein 1; ELP1; IKAP
Entrez Gene ID
UniProt ID

Product Background


Gene summary
IKBKAP (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein) is a Protein Coding gene. Diseases associated with IKBKAP include dysautonomia, familial and dysautonomia. Among its related pathways are Chromatin organization and TNF-alpha/NF-kB Signaling Pathway. GO annotations related to this gene include binding and RNA polymerase II core binding. The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms.
Antigen Description
Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry. The function about IKBKAP antigen include ATP binding; contributes_to DNA binding; phosphorylase kinase regulator activity; protein binding; protein kinase activity; signal transducer activity.
Pathway
TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem.

Citations


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References


Bowes, JD; Potter, C; et al. Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. PHARMACOGENETICS AND GENOMICS 19:319-323(2009).
Cheng, WWC; Tang, CSM; et al. Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype. WORLD JOURNAL OF GASTROENTEROLOGY 21:2040-2046(2015).

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