DISEASES

Disease-gene associations mined from literature

Literature associating IKBKG and hypohidrotic ectodermal dysplasia

IKBKG [ENSP00000483825]

Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma; 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. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either 'Lys-63'- linked or linear polyubiquitin) and its functional importance is reported conflictingly. 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. Essential for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires 'Lys-27'-linked polyubiquitination; Zinc fingers C2HC-type

Synonyms:  IKBKG,  A8MV29,  C9J1R1,  C9J2V2,  C9JCG6 ...

Linkouts:  STRING  Pharos  UniProt