Literature associating PHOX2B and Hirschsprung's disease
Paired mesoderm homeobox protein 2B; 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; Belongs to the paired homeobox family.
Synonyms: PHOX2B, PHOX2Bp, hPHOX2B, PHOX2B-001, PHOX2B-002 ...