paired like homeobox 2B
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L PHOX2B gene provides instructions for making a protein that is important during development before birth. The PHOX2B protein helps support the formation of nerve cells (neurons) and regulates the process by which the neurons mature to carry out specific functions (differentiation). During neuron development, the protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, which controls body functions such as breathing, blood pressure, heart rate, and digestion. Neural crest cells also give rise to many tissues in the face and skull, and other tissue and cell types.
Normal function
L PHOX2B gene provides instructions for making a protein that is important during development before birth. The PHOX2B protein helps support the formation of nerve cells (neurons) and regulates the process by which the neurons mature to carry out specific functions (differentiation). During neuron development, the protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, which controls body functions such as breathing, blood pressure, heart rate, and digestion. Neural crest cells also give rise to many tissues in the face and skull, and other tissue and cell types.
The protein produced from the PHOX2B gene contains two areas where a protein building block (amino acid) called alanine is repeated multiple times. These stretches of alanines are known as polyalanine tracts or poly(A) tracts.
Conditions referring to this gene or chromosome
Altri nomi
NBLST2
NBPhox
neuroblastoma paired-type homeobox protein
neuroblastoma Phox
paired like homeobox 2b
paired mesoderm homeobox 2b
paired-like homeobox 2b
Phox2b
PHOX2B homeodomain protein
PHX2B_HUMAN
PMX2B
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Ulteriori letture e riferimenti
- paired like homeobox 2B; MedlinePlus, National Library of Medicine.
- Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. doi: 10.1164/rccm.200602-305OC. Epub 2006 Aug 3.
- Di Lascio S, Benfante R, Di Zanni E, Cardani S, Adamo A, Fornasari D, Ceccherini I, Bachetti T. Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome. Hum Mutat. 2018 Feb;39(2):219-236. doi: 10.1002/humu.23365. Epub 2017 Nov 21.
- Gaultier C, Trang H, Dauger S, Gallego J. Pediatric disorders with autonomic dysfunction: what role for PHOX2B? Pediatr Res. 2005 Jul;58(1):1-6. doi: 10.1203/01.PDR.0000166755.29277.C4. Epub 2005 May 18.
- Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A. 2018 Jul;176(7):1627-1631. doi: 10.1002/ajmg.a.38720. Epub 2018 Apr 28.
- Raabe EH, Laudenslager M, Winter C, Wasserman N, Cole K, LaQuaglia M, Maris DJ, Mosse YP, Maris JM. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. Oncogene. 2008 Jan 17;27(4):469-76. doi: 10.1038/sj.onc.1210659. Epub 2007 Jul 16.
- Reiff T, Tsarovina K, Majdazari A, Schmidt M, del Pino I, Rohrer H. Neuroblastoma phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons. J Neurosci. 2010 Jan 20;30(3):905-15. doi: 10.1523/JNEUROSCI.5368-09.2010.
- Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009 Jan;98(1):192-5. doi: 10.1111/j.1651-2227.2008.01039.x. Epub 2008 Sep 16.
- Sasaki A, Kishikawa Y, Imaji R, Fukushima Y, Nakamura Y, Nishimura Y, Yamada M, Mino Y, Mitsui T, Hayasaka K. Novel PHOX2B mutations in congenital central hypoventilation syndrome. Pediatr Int. 2019 Apr;61(4):393-396. doi: 10.1111/ped.13812. Epub 2019 Apr 17.
- Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet. 2005 Dec 1;14(23):3697-708. doi: 10.1093/hmg/ddi401. Epub 2005 Oct 25.
- Weese-Mayer DE, Rand CM, Khaytin I, Slattery SM, Yap KL, Marazita ML, Berry-Kravis EM. Congenital Central Hypoventilation Syndrome. 2004 Jan 28 [updated 2021 Jan 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1427/
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