PHOX2B

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paired-like homeobox 2b
Identifiers
Symbol	PHOX2B PMX2B
HUGO	9143
Entrez	8929
OMIM	603851
RefSeq	NM_003924
UniProt	Q99453
Other data
Locus	Chr. 4 p12

PHOX2B is a human gene located on chromosome 4. It codes for a homeodomain transcription factor. It is expressed exclusively in the nervous system, in most neurons that control the viscera (cardiovascular, digestive and respiratory systems). It is also required for their differentiation. Mutations in human PHOX2B cause a rare disease of the visceral nervous system (or dysautonomia): Ondine's curse or Congenital Central Hypoventilation Syndrome (or CCHS), which associates respiratory arrests during sleep, Hirschprung's disease (partial agenesis of the enteric nervous system) and tumors of the sympathetic ganglia.