Structural highlights
Disease
PHX2B_HUMAN Neuroblastoma;Congenital central hypoventilation syndrome;Hirschsprung disease-ganglioneuroblastoma syndrome;Haddad syndrome. The disease is caused by variants affecting the gene represented in this entry. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Function
PHX2B_HUMAN Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.
