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Background
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IKK gamma is a regulatory subunit part of the IKK-signalosome complex activation. It is also considered to be a mediator for TAX activation of NF-kappa-B. This protein could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Defects in IKBKG are the cause of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). EDA-ID is a X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Defects in IKBKG are the cause of familial incontinentia pigmenti type II (IP2), an X-linked dominant disease causing death in male fetuses. In heterozygous female, it is characterized by disturbance of skin pigmentation sometimes associated with a variety of malformations of the eye, nails, teeth, skeleton, heart, and central nervous system.
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Background
References
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- Qin,J.,et al. J. Biol. Chem. 281 (30), 21013-21021 (2006)
- Mauro,C., et al. J. Biol. Chem. 281 (27), 18482-18488 (2006)
- Reiley,W., et al. Mol. Cell. Biol. 25 (10), 3886-3895 (2005)
- Verma,U.N., et al. J. Biol. Chem. 279 (5), 3509-3515 (2004)
- Tang,E.D., et al. J. Biol. Chem. 278 (39), 37297-37305 (2003)
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