| Gene Symbol | FOXP3 |
| Entrez Gene ID | 50943 |
| Full Name | forkhead box P3 |
| Synonyms | AIID,DIETER,IPEX,JM2,PIDX,XPID |
| General protein information |
|
| 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) |









































User Manual