Literature associating PHOX2B and Hirschsprung's disease
PHOX2B [ENSP00000226382]
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, Q99453, Q99453p ...