HESX1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HESX1 wild-type allele is located in the vicinity of 3p14.3 and is approximately 30 kb in length. This allele, which encodes homeobox expressed in ES cells 1 protein, plays a role in pituitary development. Mutations in the gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency 5.

**Synonyms:** - ANF - CPHD5 - HESX Homeobox 1 wt Allele - Homeobox Gene Expressed in ES Cells Gene - Homeobox, ES Cell Expressed 1 Gene - RPX - Rathke Pouch Homeobox Gene - Rathke's Pouch Homeobox Gene