The HESX1 gene provides instructions for producing a protein that regulates the activity of other genes. On the basis of this action, the HESX1 protein is called a transcription factor. The HESX1 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many body structures.
The HESX1 protein plays an important role in early brain development. In particular, it is essential for the formation of the pituitary, which is a gland at the base of the brain that produces several hormones. The HESX1 protein is also necessary for the development of structures at the front of the brain (the forebrain), including the nerves that carry visual information from the eyes to the brain (optic nerves).
The HESX1 protein interacts with other proteins, including the protein produced from the PROP1 gene, during embryonic development. Both the HESX1 protein and the PROP1 protein bind to DNA and control the activity of other genes. The HESX1 protein turns off (represses) genes, while the PROP1 protein turns on (activates) genes. These proteins work together to coordinate the development of certain parts of the brain.
Other Names
ANF; CPHD5; HESX1_HUMAN; homeobox, ES cell expressed 1; Rathke pouch homeobox; RPX
Related Genetics Topics
- Septo-optic dysplasia — MedlinePlus Genetics
- Combined pituitary hormone deficiency — MedlinePlus Genetics
Identifiers
- NCBI Gene: 8820
- OMIM: 601802
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
