IKBKG Antibody – Rabbit Polyclonal

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. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]

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

Molecular Function: protein binding; protein domain specific binding; protein heterodimerization activity; protein homodimerization activity; signal transducer activity; ubiquitin protein ligase binding

Biological Process: activation of MAPK activity; activation of NF-kappaB transcription factor; apoptosis; establishment of vesicle localization; I-kappaB kinase/NF-kappaB cascade; immune response; inflammatory response; innate immune response; JNK cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription from RNA polymerase II promoter; response to DNA damage stimulus; response to virus; stimulatory C-type lectin receptor signaling pathway; stress-activated MAPK cascade; T cell receptor signaling pathway

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