IKBKG
Template:PBB Inhibitor of Kappa Light Polypeptide Gene Enhancer in B Cells Gamma Kinase (IKBKG), also known as NF-Kappa-B Essential Modulator (NEMO), is a protein that is a subunit of the IκB kinase that activates NF-κB, known as Inhibitor of kappa B Kinase (IKK).[1] The gene for IKBKG is located on chromosome Xq28.[2] Multiple transcript variants encoding different isoforms have been found for this gene.
Function
This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways.
Clinical significance
Mutations in this gene result in incontinentia pigmenti,[3] hypohidrotic ectodermal dysplasia,[4] and several other types of immunodeficiencies.
Incontinentia Pigmenti (IP) is an X-linked dominant disease caused by a mutation in the IKBKG gene. Since IKBKG helps activate NF-κB, which protects cells against TNF-alpha induced apoptosis, a lack of IKBKG (and hence a lack of active NF-κB) makes cells more prone to apoptosis.
References
- ^ Rothwarf DM, Zandi E, Natoli G, Karin M (1998). "IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex". Nature. 395 (6699): 297–300. doi:10.1038/26261. PMID 9751060.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Jin DY, Jeang KT (1999). "Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28". J. Biomed. Sci. 6 (2): 115–20. doi:10.1159/000025378. PMID 10087442.
- ^ Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL (2001). "A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations". Hum. Mol. Genet. 10 (19): 2171–9. PMID 11590134.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM (2000). "A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)". Am. J. Hum. Genet. 67 (6): 1555–62. doi:10.1086/316914. PMC 1287930. PMID 11047757.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
Further reading
External links
- IKBKG+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- OMIM IKBKG
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