DISEASES

Disease-gene associations mined from literature

PHOX2B disease associations

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM