PHOX2B : paired like homeobox 2B

Description

The PHOX2B (paired like homeobox 2B) is a protein-coding gene located on chromosome 4.

The PHOX2B gene provides instructions for making a protein crucial for development before birth. This protein, PHOX2B, assists in the formation of nerve cells (neurons) and regulates their maturation into specialized functions. During neuron development, PHOX2B is active in the neural crest, a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, controlling functions like breathing, blood pressure, heart rate, and digestion. They also give rise to tissues in the face and skull, and other cell types. The PHOX2B protein contains two areas with repeated alanine amino acids, known as polyalanine tracts or poly(A) tracts.

PHOX2B plays a crucial role in the development of several major noradrenergic neuron populations, including the locus coeruleus. It functions as a transcription factor, potentially influencing the neurotransmitter phenotype in vertebrates. Additionally, PHOX2B enhances the activation of dopamine beta-hydrolase and c-fos promoters through second-messenger pathways. This activation extends to several enhancers, such as the cAMP-response element and the serum-response element.

PHOX2B is also known as CCHS, NBLST2, NBPhox, PMX2B.

Associated Diseases

• Haddad syndrome
• Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
• Hirschsprung disease-ganglioneuroblastoma syndrome
• Congenital central hypoventilation syndrome
• Neuroblastoma
• Neuroblastoma, susceptibility to, 2