paired like homeobox 2A
Last updated 18 Aug 2020
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The PHOX2A gene provides instructions for making a protein that is found in the nervous system. This protein acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation).
Normal function
The PHOX2A gene provides instructions for making a protein that is found in the nervous system. This protein acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation).
Most of researchers' knowledge about the PHOX2A protein comes from studies in animals. From these studies, it is clear that the protein plays a critical role in the development of the autonomic nervous system, which controls involuntary body functions such as breathing, blood pressure, heart rate, and digestion. The PHOX2A protein is also involved in the formation of certain nerves in the head and face (cranial nerves). Specifically, it appears to be critical for the development and function of cranial nerves III and IV, which emerge from the brain and control many of the muscles that surround the eyes (extraocular muscles). These muscles direct eye movement and determine the position of the eyes.
Conditions referring to this gene or chromosome
Other names
aristaless homeobox homolog
aristaless homeobox protein homolog
ARIX
arix homeodomain protein
ARIX1 homeodomain protein
CFEOM2
FEOM2
MGC52227
NCAM2
paired like homeobox 2a
paired mesoderm homeobox protein 2A
paired-like homeobox 2a
PHX2A_HUMAN
PMX2A
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Further reading and references
- paired like homeobox 2A; MedlinePlus, National Library of Medicine.
- Benfante R, Flora A, Di Lascio S, Cargnin F, Longhi R, Colombo S, Clementi F, Fornasari D. Transcription factor PHOX2A regulates the human alpha3 nicotinic receptor subunit gene promoter. J Biol Chem. 2007 May 4;282(18):13290-302. doi: 10.1074/jbc.M608616200. Epub 2007 Mar 7.
- Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K, Engle EC. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain. 2006 Sep;129(Pt 9):2363-74. doi: 10.1093/brain/awl161. Epub 2006 Jun 30.
- Hasan KB, Agarwala S, Ragsdale CW. PHOX2A regulation of oculomotor complex nucleogenesis. Development. 2010 Apr;137(7):1205-13. doi: 10.1242/dev.041251.
- Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008 Jan-Feb;23(1):3-8. doi: 10.1080/08820530701745181.
- Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001 Nov;29(3):315-20. doi: 10.1038/ng744.
- Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF. Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development. 1997 Oct;124(20):4065-75. doi: 10.1242/dev.124.20.4065.
- Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol. 2003 Nov;136(5):861-5. doi: 10.1016/s0002-9394(03)00891-2.
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