OTX2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human OTX2 wild-type allele is located in the vicinity of 14q22.3 and is approximately 10 kb in length. This allele, which encodes homeobox protein OTX2, plays a role in the positive regulation of gene expression during embryonic pattern formation. Mutation of the gene is associated with both microphthalmia syndromic type 5 and pituitary hormone deficiency combined type 6.

**Synonyms:** - CPHD6 - MCOPS5 - Orthodenticle Homeobox 2 wt Allele