RAX

Description

The RAX gene, encodes a transcription factor crucial for the development and function of the central nervous system. It plays a pivotal role in the formation of the retina, the anterior pituitary gland, and other brain structures. RAX acts by binding to specific DNA sequences, regulating the expression of genes involved in cell proliferation, differentiation, and migration during brain development. Mutations in the RAX gene can lead to various neurodevelopmental disorders, highlighting its importance in maintaining normal brain function.

Associated Diseases

• Anophthalmia (absence of eyes)
• Microphthalmia (small eyes)
• Seizures
• Mental retardation
• Cerebral palsy
• Hypothalamic-pituitary dysfunction

Did you know?

RAX is a master regulator of eye development, controlling the expression of over 100 genes involved in eye formation.