Background: Probable transcription factor. Plays a critical role in the control of immune response. Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX); also known as X-linked autoimmunity-immunodeficiency syndrome. IPEX is characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, trombocytopenia, anemia and eczema. It is usually lethal in infancy.
Immunogen: Synthetic peptide derived from human FOXP3 protein.
Formulation: Provided as solution in phosphate buffered saline.
References: 1. Bennett, C.L., et al. 'The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.; Nat. Genet. 27:20-21(2001).
2. Wildin, R.S., et al. 'X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.; Nat. Genet. 27:18-20(2001).
3. Brunkow, M.E., et al. 'Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.; Nat. Genet. 27:68-73(2001).
UniProt: Q9BZS1 (Human).
Caution: This product is intended FOR RESEARCH USE ONLY, and FOR TESTS IN VITRO, not for use in diagnostic or therapeutic procedures involving humans or animals.
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