Gene Symbol | IKBKG |
Entrez Gene ID | 8517 |
Full Name | inhibitor of nuclear factor kappa B kinase subunit gamma |
Synonyms | AMCBX1,FIP-3,FIP3,Fip3p,IKK-gamma,IKKAP1,IKKG,IMD33,IP,IP1,IP2,IPD2,NEMO,ZC2HC9 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Incontinentia pigmenti, 308300 (3); Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3); Immunodeficiency, isolated, 300584 (3); Immunodeficiency 33, 300636 (3); Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3) |