HESX1 : HESX homeobox 1

Description

The HESX1 (HESX homeobox 1) is a protein-coding gene located on chromosome 3.

The HESX1 gene provides instructions for making a protein that regulates the activity of other genes, known as a transcription factor. It belongs to the homeobox gene family, which controls the formation of various body structures during early embryonic development. The HESX1 protein plays a crucial role in early brain development, particularly in the formation of the pituitary gland, a hormone-producing gland at the base of the brain. It is also essential for the development of the forebrain, including the optic nerves that transmit visual information from the eyes to the brain. The HESX1 protein works with other proteins, including the PROP1 protein, during embryonic development. Both HESX1 and PROP1 bind to DNA and control the activity of other genes. HESX1 turns off (represses) genes, while PROP1 turns on (activates) genes. These proteins work together to coordinate the development of specific brain regions.

HESX1 is also known as ANF, CPHD5, RPX.

Associated Diseases

• Septooptic dysplasia
• Septo-optic dysplasia spectrum
• Hypothyroidism due to deficient transcription factors involved in pituitary development or function
• Pituitary stalk interruption syndrome
• Combined pituitary hormone deficiencies, genetic forms
• Kallmann syndrome
• Septo-optic dysplasia
• Combined pituitary hormone deficiency