OTX2 : orthodenticle homeobox 2
Description
The OTX2 (orthodenticle homeobox 2) is a protein-coding gene located on chromosome 14.
The OTX2 gene provides instructions for making a protein that controls the activity of other genes. This protein, called a transcription factor, is part of a family of homeobox genes that guide the formation of many body structures during early embryonic development. The OTX2 gene plays a crucial role in the development of the eyes and associated structures, such as the optic nerves that transmit visual information to the brain. It also participates in brain development, including the formation of the pituitary gland, which produces hormones regulating growth, reproduction, and other essential bodily functions.
OTX2 is also known as CPHD6, MCOPS5.
Associated Diseases
- Septo-optic dysplasia spectrum
- Pituitary hormone deficiency, combined, 6
- Combined pituitary hormone deficiencies, genetic forms
- Nanophthalmos
- Microphthalmia, syndromic 5
- Agnathia-holoprosencephaly-situs inversus syndrome
- Septo-optic dysplasia
- Combined pituitary hormone deficiency
- Microphthalmia
- Coloboma
