PHOX2B

PHOX2B

protein
Name = paired-like homeobox 2b
caption =


width =
HGNCid = 9143
Symbol = PHOX2B
AltSymbols = PMX2B
EntrezGene = 8929
OMIM = 603851
RefSeq = NM_003924
UniProt = Q99453
PDB =
ECnumber =
Chromosome = 4
Arm = p
Band = 12
LocusSupplementaryData =

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.

External links

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