Disease-gene associations mined from literature

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,  PHOX2B-001,  PHOX2B-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM