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paired-like homeobox 2b
Identifiers
Symbol PHOX2B
Alt. symbols PMX2B
Entrez 8929
HUGO 9143
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.

Pathology

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.

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