IKBKG

NF-kappa-B essential modulator ;
NEMO ;
FIP-3 ;
IkB kinase-associated protein 1 ;
IKKAP1 ;
Inhibitor of nuclear factor kappa-B kinase subunit gamma ;
I-kappa-B kinase subunit gamma ;
IKK-gamma ;
IKKG ;
IkB kinase subunit gamma ;
NF-kappa-B essential modifier ;

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] ,

Caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. ,Disease:Defects in IKBKG are a cause of immunodeficiency without anhidrotic ectodermal dysplasia [MIM:300584]; also called isolated immunodeficiency or pure immunodeficiency. Patients manifest immunodeficiency not associated with other abnormalities , and resulting in increased infection susceptibility. Patients suffer from multiple episodes of infectious diseases. ,Disease:Defects in IKBKG are the cause of ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) [MIM:300291]; also known as hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) . Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAXID is characterized by absence of sweat glands , sparse scalp hair , rare conical teeth and immunological abnormalities resulting in severe infectious diseases. ,Disease:Defects in IKBKG are the cause of ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphedema (OLEDAID) [MIM:300301]. ,Disease:Defects in IKBKG are the cause of incontinentia pigmenti (IP) [MIM:308300]; formerly designed familial incontinentia pigmenti type II (IP2) . IP is a genodermatosis usually prenatally lethal in males. In affected females , it causes abnormalities of the skin , hair , eyes , nails , teeth , skeleton , heart , and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles , verrucous patches , a distinctive pattern of hyperpigmentation and dermal scarring. ,Disease:Defects in IKBKG are the cause of recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:300640]. Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart , whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series , making IPD the most important known risk factor for subsequent IPD. ,Disease:Defects in IKBKG are the cause of susceptibility to X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]; also known as X-linked disseminated atypical mycobacterial infection type 1 or X-linked susceptibility to mycobacterial disease type 1. AMCBX1 is the X-linked recessive form of mendelian susceptibility to mycobacterial disease (MSMD) . MSMD is a congenital syndrome resulting in predisposition to clinical disease caused by weakly virulent mycobacterial species , such as bacillus Calmette-Guerin vaccines and non-tuberculous , environmental mycobacteria. Patients are also susceptible to the more virulent species Mycobacterium tuberculosis. ,Function:Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. ,online information:IKBKG mutation db ,PTM:Mono-ubiquitinated on Lys-277 and Lys-309; promotes nuclear export. ,PTM:Phosphorylation at Ser-68 attenuates aminoterminal homodimerization. ,PTM:Polyubiquitinated on Lys-285 through 'Lys-63'; the ubiquitination is mediated by NOD2 and RIPK2 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. ,PTM:Polyubiquitinated on Lys-399 through 'Lys-63'; the ubiquitination is mediated by BCL10 , MALT1 and TRAF6 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. ,PTM:Sumoylated on Lys-277 and Lys-309 by SUMO1; the modification results in phosphorylation of Ser-85 by ATM leading to a replacement of the sumoylation by mono-ubiquitination on these residues. ,similarity:Contains 1 C2HC-type zinc finger. ,subunit:Homodimer; disulfide-linked. Component of the I-kappa-B-kinase (IKK) core complex consisting of CHUK , IKBKB and IKBKG; probably four alpha/CHUK-beta/IKBKB dimers are associated with four gamma/IKBKG subunits. The IKK core complex seems to associate with regulatory or adapter proteins to form a IKK-signalosome holo-complex. Part of a complex composed of NCOA2 , NCOA3 , CHUK/IKKA , IKBKB , IKBKG and CREBBP. Interacts with COPS3 , CYLD , NALP2 , TRPC4AP and LRDD. Interacts with ATM; the complex is exported from the nucleus. Interacts with TRAF6. Interacts with HTLV-1 Tax oncoprotein; the interaction activates IKBKG. Interacts with TANK; the interaction is enhanced by IKBKE and TBK1. Part of a ternary complex consisting of TANK , IKBKB and IKBKG. ,tissue specificity:Heart , brain , placenta , lung , liver , skeletal muscle , kidney and pancreas. ,

Cytoplasm . Nucleus . Sumoylated NEMO accumulates in the nucleus in response to genotoxic stress. .