Orthodenticle Homeobox 2 (OTX2) (AA 1-297) protein
Description
Homeobox Protein OTX2 is a number of the paired homeobox family of the Bicoid subfamily. OTX2 contains 1 homeobox DNA-binding domain and expresses in brain. OTX2 may play a role in the development of the brain and the sense organs. OTX2 positively regulate of gastrulation and embryonic development. Defects in OTX2 are the cause of microphthalmia syndromic type 5, which is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. It also causes pituitary hormone deficiency combined type 6. Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones.Alternative Names: Homeobox Protein OTX2, Orthodenticle Homolog 2, OTX2