Western blot analysis of murine FOXP3 using FOXP3 polyclonal antibody (Cat # PAB12427). Lane 1 : Human CD4+CD25+ PBL, lane 2 : HEK293T transfected with human Foxp3 cDNA, lane 3 : 293/mouse foxp3, lane 4 : 293/empty vector.
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