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C222677Level 5

FOXE3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FOXE3 wild-type allele is located in the vicinity of 1p33 and is approximately 2 kb in length. This allele, which encodes forkhead box protein E3, plays a role in the development of the anterior segment of the eye. Mutations in the gene are associated with anterior segment dysgenesis 2, cataract 34 (multiple types) and susceptibility to familial thoracic aortic aneurysm 11.

**Synonyms:** - AAT11 - ASGD2 - CATC3 - CTRCT34 - FKHL12 - FREAC8 - Forkhead Box E3 wt Allele - Forkhead, Drosophila, Homolog-Like 12 Gene - Forkhead-Related Activator 8 Gene

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