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C75889Level 5

PAX6 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PAX6 wild-type allele is located in the vicinity of 11p13 and is approximately 29 kb in length. This allele, which encodes paired box protein Pax-6, plays a role in the mediation of transcription. Mutations in the gene are associated with a number of congenital disorders of the eye.

**Synonyms:** - AN - AN1 - AN2 - ASGD5 - Aniridia, Keratitis Gene - D11S812E - FVH1 - MGC17209 - MGDA - Paired Box 6 wt Allele - Paired Box Gene 6 - Paired Box Gene 6 (Aniridia, Keratitis) Gene - Paired Box Homeotic Gene-6 - WAGR

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