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

*


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Ondine's curse — Classification and external resources ICD 10 G47.3 ICD 9 348.8 …   Wikipedia

  • 4-я хромосома человека — Идиограмма 4 й хромосомы человека 4 я хромосома человека  одна из 23 человеческих хромосом. Хромосома содержит более 191 млн пар оснований[1], ч …   Википедия

  • PHOX2A — Paired like (aristaless) homeobox 2a, also known as PHOX2A, is a human gene.cite web | title = Entrez Gene: PHOX2A paired like (aristaless) homeobox 2a| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=401|… …   Wikipedia

  • Neuroblastome — Vue microscopique d un neuroblastome typique avec formation de rosettes. Le neuroblastome est la tumeur solide extra crânienne la plus fréquente chez le jeune enfant. C est un cancer touchant des cellules embryonnaires de la crête neurale qui… …   Wikipédia en Français

  • Syndrome d'Ondine — Pour les articles homonymes, voir Ondinisme. Syndrome d Ondine Référence MIM 209880 Transmission Dominante Chromosome …   Wikipédia en Français

  • Cancer research — This article is about research into cancer, in general. For the UK based charity, see Cancer Research UK. For the journal, see Cancer Research (journal). University of Florida Cancer Hospital Cancer research is basic research into cancer in order …   Wikipedia

  • Chromosome 4 (human) — Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the… …   Wikipedia

  • TLX2 — T cell leukemia homeobox 2, also known as TLX2, is a human gene.cite web | title = Entrez Gene: TLX2 T cell leukemia homeobox 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=3196| accessdate = ] PBB… …   Wikipedia

  • Maladie De Hirschsprung — La maladie de Hirschsprung est une anomalie de fonctionnement de la partie terminale de l’intestin se traduisant par une constipation ou une occlusion intestinale. Cette anomalie est le résultat de l’absence de développement congénital des… …   Wikipédia en Français

  • Maladie de Hirschsprung — Classification et ressources externes Histopathologie / Maladie de Hirschsprung. Présence aberrante de fibres positives à l enzyme …   Wikipédia en Français


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.