| forkhead box P3 | OKDB#: 5286 |
| Symbols: | FOXP3 | Species: | human | ||
| Synonyms: | JM2, AIID, IPEX, PIDX, XPID, DIETER | Locus: | Xp11.23 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
| General function | DNA binding, Transcription factor | ||||
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| Cellular localization | Nuclear | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Nov. 4, 2015, 11:23 a.m. | by: |
system email:
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| last update: | Nov. 4, 2015, 11:24 a.m. | by: | hsueh email: |
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