NFKBIA : NFKB inhibitor alpha
Description
The NFKBIA (NFKB inhibitor alpha) is a protein-coding gene located on chromosome 14.
The NFKBIA gene provides instructions for making a component of the IKK protein complex, which regulates the activity of nuclear factor-kappa-B (NF-kappa-B). NF-kappa-B is a protein complex that controls the activity of other genes. NFKBIA helps keep NF-kappa-B bound to the IKK complex. When a signal triggers NF-kappa-B's release, NFKBIA breaks down, allowing NF-kappa-B to activate and move into the nucleus. NF-kappa-B regulates genes involved in immune responses, inflammation, and the development of ectodermal tissues. It also protects cells from apoptosis.
NFKBIA inhibits the activity of NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm, preventing their entry into the nucleus. Upon cellular stimulation by immune and pro-inflammatory responses, NFKBIA undergoes phosphorylation, leading to its ubiquitination and degradation. This allows the RELA dimer to translocate to the nucleus and activate transcription.
NFKBIA is also known as EDAID2, IKBA, MAD-3, NFKBI.
Associated Diseases
- Hypohidrotic ectodermal dysplasia with immunodeficiency
- Ectodermal dysplasia and immunodeficiency 2
- Anhidrotic ectodermal dysplasia with immune deficiency
