C104395Level 5
FOXP3 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human FOXP3 wild-type allele is located in the vicinity of Xp11.23 and is approximately 14 kb in length. This allele, which encodes forkhead box protein P3, plays a role in transcription regulation and the immune response. Mutations in this gene are associated with immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).
**Synonyms:** - AIID - DIETER - Forkhead Box P3 wt Allele - IPEX - JM2 - PIDX - SCURFIN - XPID
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