PHOX2B Gene
The PHOX2B gene provides instructions for making a protein important during development before birth. The PHOX2B protein helps support the formation of neurons and regulates the process by which the neurons mature to carry out specific functions. During neuron development, the protein is active in the neural crest. Neural crest cells migrate to form parts of the autonomic nervous system, which controls body functions such as breathing, blood pressure, heart rate, and digestion. More than 75 mutations in the PHOX2B gene have been found to cause congenital central hypoventilation syndrome (CCHS). This condition is characterized by hypoventilation, especially during sleep, that typically begins in infancy. Affected individuals often have other problems involving the autonomic nervous system, including difficulty regulating heart rate, blood pressure, and body temperature.
