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词条 PHOX2B
释义

  1. Pathology

  2. References

  3. Further reading

  4. External links

{{Infobox_gene}}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.

Pathology

Mutations in human PHOX2B cause a rare disease of the visceral nervous system (dysautonomia): congenital central hypoventilation syndrome (associated with respiratory arrests during sleep and, occasionally, wakefulness), Hirschsprung's disease (partial agenesis of the enteric nervous system), ROHHAD, 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 may also be other pathogenic mutations further along the gene.

References

1. ^{{cite web | title = Entrez Gene: paired-like homeobox 2b| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8929| accessdate = }}
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Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Glas J, Seiderer J, Pasciuto G, etal |title=rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population. |journal=Am. J. Gastroenterol. |volume=104 |issue= 3 |pages= 665–72 |year= 2009 |pmid= 19262523 |doi= 10.1038/ajg.2008.65 }}
  • {{cite journal |vauthors=Gaultier C, Trang H, Dauger S, Gallego J |title=Pediatric disorders with autonomic dysfunction: what role for PHOX2B? |journal=Pediatr. Res. |volume=58 |issue= 1 |pages= 1–6 |year= 2005 |pmid= 15901893 |doi= 10.1203/01.PDR.0000166755.29277.C4 }}
  • {{cite journal |vauthors=Liu CP, Li XG, Lou JT, etal |title=Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. |journal=J. Pediatr. Surg. |volume=44 |issue= 9 |pages= 1805–11 |year= 2009 |pmid= 19735829 |doi= 10.1016/j.jpedsurg.2008.12.009 }}
  • {{cite journal |vauthors=Repetto GM, Corrales RJ, Abara SG, etal |title=Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. |journal=Acta Paediatr. |volume=98 |issue= 1 |pages= 192–5 |year= 2009 |pmid= 18798833 |doi= 10.1111/j.1651-2227.2008.01039.x }}
  • {{cite journal |vauthors=Fan Y, Huang J, Kieran N, Zhu MY |title=Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells. |journal=J. Neurochem. |volume=110 |issue= 5 |pages= 1502–13 |year= 2009 |pmid= 19573018 |doi= 10.1111/j.1471-4159.2009.06260.x }}
  • {{cite journal |vauthors=McGaughey DM, Stine ZE, Huynh JL, etal |title=Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend. |journal=BMC Genomics |volume=10 |issue= |pages= 8 |year= 2009 |pmid= 19128492 |doi= 10.1186/1471-2164-10-8 |pmc=2630312}}
  • {{cite journal |vauthors=Jennings LJ, Yu M, Zhou L, etal |title=Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. |journal=Diagn. Mol. Pathol. |volume=19 |issue= 4 |pages= 224–31 |year= 2010 |pmid= 21051998 |doi= 10.1097/PDM.0b013e3181eb92ff }}
  • {{cite journal |vauthors=Tu E, Bagnall RD, Duflou J, etal |title=Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus. |journal=Hum. Pathol. |volume=41 |issue= 3 |pages= 392–400 |year= 2010 |pmid= 20004937 |doi= 10.1016/j.humpath.2009.08.020 }}
  • {{cite journal |vauthors=Janoueix-Lerosey I, Schleiermacher G, Delattre O |title=Molecular pathogenesis of peripheral neuroblastic tumors. |journal=Oncogene |volume=29 |issue= 11 |pages= 1566–79 |year= 2010 |pmid= 20101209 |doi= 10.1038/onc.2009.518 }}
  • {{cite journal |vauthors=Longo L, Borghini S, Schena F, etal |title=PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma. |journal=Int. J. Oncol. |volume=33 |issue= 5 |pages= 985–91 |year= 2008 |pmid= 18949361 |doi= 10.3892/ijo_00000086 }}
  • {{cite journal |vauthors=Hammel M, Klein M, Trips T, etal |title=Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents. |journal=Klin Padiatr |volume=221 |issue= 5 |pages= 286–9 |year= 2009 |pmid= 19707990 |doi= 10.1055/s-0029-1220941 }}
  • {{cite journal |vauthors=Arai H, Otagiri T, Sasaki A, etal |title=Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. |journal=J. Hum. Genet. |volume=55 |issue= 1 |pages= 4–7 |year= 2010 |pmid= 19881470 |doi= 10.1038/jhg.2009.109 }}
  • {{cite journal |vauthors=Lee P, Su YN, Yu CJ, etal |title=PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. |journal=Chest |volume=135 |issue= 2 |pages= 537–44 |year= 2009 |pmid= 19201717 |doi= 10.1378/chest.08-1664 }}
  • {{cite journal |vauthors=Wu HT, Su YN, Hung CC, etal |title=Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants. |journal=Hum. Mutat. |volume=30 |issue= 4 |pages= 655–60 |year= 2009 |pmid= 19191321 |doi= 10.1002/humu.20929 }}
  • {{cite journal |vauthors=Trochet D, Mathieu Y, Pontual L, etal |title=In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. |journal=Hum. Mutat. |volume=30 |issue= 2 |pages= E421-31 |year= 2009 |pmid= 19058226 |doi= 10.1002/humu.20923 }}
  • {{cite journal |vauthors=Dubreuil V, Thoby-Brisson M, Rallu M, etal |title=Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons. |journal=J. Neurosci. |volume=29 |issue= 47 |pages= 14836–46 |year= 2009 |pmid= 19940179 |doi= 10.1523/JNEUROSCI.2623-09.2009 }}
  • {{cite journal |vauthors=Serra A, Häberle B, König IR|title=Rare occurrence of PHOX2b mutations in sporadic neuroblastomas. |journal=J. Pediatr. Hematol. Oncol. |volume=30 |issue= 10 |pages= 728–32 |year= 2008 |pmid= 19011468 |doi= 10.1097/MPH.0b013e3181772141 |display-authors=etal}}
  • {{cite journal |vauthors=Rudzinski E, Kapur RP |title=PHOX2B immunolocalization of the candidate human retrotrapezoid nucleus. |journal=Pediatr. Dev. Pathol. |volume=13 |issue= 4 |pages= 291–9 |year= 2010|pmid= 19888871 |doi= 10.2350/09-07-0682-OA.1 }}
  • {{cite journal |vauthors=Larkin EK, Patel SR, Goodloe RJ, etal |title=A candidate gene study of obstructive sleep apnea in European Americans and African Americans. |journal=Am. J. Respir. Crit. Care Med. |volume=182 |issue= 7 |pages= 947–53 |year= 2010 |pmid= 20538960 |doi= 10.1164/rccm.201002-0192OC |pmc=2970865}}
  • {{cite journal |vauthors=Lee JJ, Essers JB, Kugathasan S, etal |title=Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. |journal=Ann. Hum. Genet. |volume=74 |issue= 6 |pages= 489–97 |year= 2010 |pmid= 20846217 |doi= 10.1111/j.1469-1809.2010.00606.x |pmc=2955808}}
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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ondine GeneReviews/NCBI/NIH/UW entry on Congenital Central Hypoventilation Syndrome]
  • {{MeshName|Phox2b+protein}}
{{Transcription factors|g3}}{{gene-4-stub}}

1 : Transcription factors
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