IKBKG Antibody – Mouse Monoclonal

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011]

IKKG: a regulatory subunit of the IKK-signalosome complex. Interacts preferentially with IKK-beta but also able to interact with IKK-alpha, IKAP, TAX, RIP and MAP3K14/NIK. Defects are the cause of familial incontinentia pigmenti type II (IP2).

Protein type: Adaptor/scaffold; Protein kinase, regulatory subunit

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: spindle pole; cytoplasm; IkappaB kinase complex; intracellular; cytosol; nucleus; ubiquitin ligase complex

Molecular Function: protein domain specific binding; protein binding; signal transducer activity; peroxisome proliferator activated receptor binding; protein homodimerization activity; protein heterodimerization activity; ubiquitin protein ligase binding; metal ion binding

Biological Process: I-kappaB kinase/NF-kappaB cascade; establishment of vesicle localization; viral reproduction; activation of MAPK activity; apoptosis; stress-activated MAPK cascade; toll-like receptor 3 signaling pathway; T cell receptor signaling pathway; toll-like receptor 10 signaling pathway; activation of NF-kappaB transcription factor; toll-like receptor 5 signaling pathway; B cell homeostasis; positive regulation of interferon type I production; JNK cascade; inflammatory response; toll-like receptor 4 signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; transcription, DNA-dependent; response to virus; MyD88-independent toll-like receptor signaling pathway; activation of NF-kappaB-inducing kinase; toll-like receptor 2 signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; innate immune response; positive regulation of transcription from RNA polymerase II promoter; immune response; toll-like receptor 9 signaling pathway; response to DNA damage stimulus

Disease: Invasive Pneumococcal Disease, Recurrent Isolated, 2; Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency; Immunodeficiency Without Anhidrotic Ectodermal Dysplasia; Immunodeficiency 33; Incontinentia Pigmenti; Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema