IKBKG(redirected from AMCBX12 5)
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IKBKGA gene on chromosome Xq28 that encodes a regulatory subunit of the IKK core complex which plays a key role in the NF-kappa-B signalling pathway by phosphorylating inhibitors in the inhibitor/NF-kappa-B complex (comprised of 3 subunits: IKBKA (IKKalpha/IKK1), IKBKB (IKKbeta/IKK2) and IKBKG (NEMO)), causing inhibitor dissociation and NF-kappa-B activation. The NF-kappa-B signalling pathway is activated by multiple stimuli, including inflammatory cytokines, bacterial or viral products, DNA damage, or other cellular stresses.
IKBKG mutations are linked to:
• Ectodermal dysplasia anhidrotic with immunodeficiency X-linked;
• Ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphoedema; and
• X-linked familial atypical micobacteriosis type 1.