Description
Paired homeobox protein 2B (PHOX2B) is a transcription factor located on chromosome 4p13, which is essential for the formation of autonomic ganglia in the autonomic nervous system. PHOX2B is expressed in neuroblastoma, brain and adrenal glands. PHOX2B deficiency can lead to susceptibility to congenital central hypoventilation syndrome (CCHS) and neuroblastoma type 2 (NBLST2)