Gene Symbol | FOXP3 |
Entrez Gene ID | 50943 |
Full Name | forkhead box P3 |
Synonyms | AIID,DIETER,IPEX,JM2,PIDX,XPID |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3); {Diabetes mellitus, type I, susceptibility to}, 222100 (3) |