The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
IHC-P
Human
1:100-500
IHC-F
Human
1:100-500
IF
Human
1:100-500
交叉反应
交叉反应: Human
相关产品
暂无相关产品
靶标
基因名
FoxP3
蛋白名
Forkhead box protein P3
亚基
Interacts with IKZF3.
亚细胞定位
Nucleus (Potential).
翻译后修饰
Acetylation on lysine residues stabilizes FOXP3 and promotes differentiation of T-cells into induced regulatory T-cells (iTregs) associated with suppressive functions. Deacetylated by SIRT1.
疾病
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.