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Title: Phox2b  
Author: World Heritage Encyclopedia
Language: English
Subject: Homeobox, Human genes, Transcription factors, NeuroD, EMX homeogene
Publisher: World Heritage Encyclopedia


Paired-like homeobox 2b
Symbols  ; NBLST2; NBPhox; PMX2B
External IDs GeneCards:
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4.[1]

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 (CCHS, associated with respiratory arrests during sleep and, occasionally, wakefulness), Hirschprung's disease (partial agenesis of the enteric nervous system) and tumours of the sympathetic ganglia. In most people, Exon 3 of the gene contains a sequence of 20 polyalanine repeats. An increase in the number of repeats is associated with congenital central hypoventilation syndrome. There are other non-polyalanine repeats that may also be involved, as well as other mutations of uncertain significance during gene sequencing.


  1. ^ "Entrez Gene: paired-like homeobox 2b". 

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