IKBKG : inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Description

The IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) is a protein-coding gene located on chromosome X.

The IKBKG gene provides instructions for producing one piece (subunit) of the IKK protein complex, which is a group of related proteins that regulates the activity of nuclear factor-kappa-B. Nuclear factor-kappa-B is a protein complex that binds to DNA and controls the activity of other genes. When the protein complex is in the resting state (inactive), nuclear factor-kappa-B and the IKK complex are attached (bound) together. In response to certain chemical signals, the IKK complex releases nuclear factor-kappa-B. The IKBKG protein plays a regulatory role in the IKK complex. Once the IKBKG protein is turned on (activated), it activates the other proteins in the complex, which in turn releases nuclear factor-kappa-B. The loose nuclear factor-kappa-B then moves into the nucleus and binds to DNA. Nuclear factor-kappa-B regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. Nuclear factor-kappa-B also appears to play a role in the signaling pathway that is critical for the formation of ectodermal tissues, including the skin, hair, teeth, and sweat glands. In addition, it protects the cell from certain signals that would otherwise cause it to self-destruct (undergo apoptosis).

The IKBKG gene encodes a regulatory subunit of the IKK core complex. This subunit plays a crucial role in activating the IKK complex, which in turn phosphorylates inhibitors of NF-kappa-B. This phosphorylation leads to the dissociation of the inhibitor/NF-kappa-B complex, ultimately resulting in the degradation of the inhibitor. IKBKG's binding to scaffolding polyubiquitin is essential for IKK activation by multiple signaling receptor pathways. IKBKG can recognize and bind both 'Lys-63'-linked and linear polyubiquitin upon cell stimulation, exhibiting a higher affinity for linear polyubiquitin. IKBKG could be involved in NF-kappa-B-mediated protection against cytokine toxicity. Additionally, it is essential for viral activation of IRF3 and participates in TLR3- and IFIH1-mediated antiviral innate responses, a function that requires 'Lys-27'-linked polyubiquitination.

IKBKG is also known as AMCBX1, EDAID1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, SAIDX, ZC2HC9.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing