disease:Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]; 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.,function:Probable transcription factor. Plays a critical role in the control of immune response.,online information:FOXP3 entry,online information:FOXP3 mutation db,similarity:Contains 1 C2H2-type zinc finger.,similarity:Contains 1 fork-head DNA-binding domain.,
Nucleus . Cytoplasm . Predominantly expressed in the cytoplasm in activated conventional T-cells whereas predominantly expressed in the nucleus in regulatory T-cells (Treg). The 41 kDa form derived by proteolytic processing is found exclusively in the chromatin fraction of activated Treg cells (By similarity). .
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