DISEASES

Disease-gene associations mined from literature

Literature associating IKBKB and ectodermal dysplasia

IKBKB [ENSP00000430684]

Inhibitor of nuclear factor kappa-B kinase subunit beta; Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses . Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE. IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor. Also phosphorylates other substrates including NCOA3, BCL10 and IRS1. Within the nucleus, acts as an adapter protein for NFKBIA degradation in UV-induced NF-kappa-B activation (PubMed:11297557, PubMed:15084260, PubMed:17213322, PubMed:19716809, PubMed:20410276, PubMed:20434986, PubMed:20797629, PubMed:21138416, PubMed:30337470). Phosphorylates RIPK1 at 'Ser-25' which represses its kinase activity and consequently prevents TNF- mediated RIPK1-dependent cell death (By similarity). ECO:0000269|PubMed:15084260, ECO:0000269|PubMed:17213322, ECO:0000269|PubMed:19716809, ECO:0000269|PubMed:20410276, ECO:0000269|PubMed:20434986, ECO:0000269|PubMed:20797629,

Synonyms:  IKBKB,  A0A499FJS7,  E5RFG5,  E5RFT3,  E5RGA0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM