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| accessdate = ]

PBB_Summary
section_title =
summary_text = The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2).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| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Brunet JF, Pattyn A |title=Phox2 genes - from patterning to connectivity. |journal=Curr. Opin. Genet. Dev. |volume=12 |issue= 4 |pages= 435–40 |year= 2003 |pmid= 12100889 |doi=
*cite journal | author=Johnson KR, Smith L, Johnson DK, "et al." |title=Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13. |journal=Genomics |volume=33 |issue= 3 |pages= 527–31 |year= 1996 |pmid= 8661014 |doi= 10.1006/geno.1996.0230
*cite journal | author=Merscher S, Bekri S, de Leeuw B, "et al." |title=A 5.5-Mb high-resolution integrated map of distal 11q13. |journal=Genomics |volume=39 |issue= 3 |pages= 340–7 |year= 1997 |pmid= 9119371 |doi=
*cite journal | author=Swanson DJ, Zellmer E, Lewis EJ |title=The homeodomain protein Arix interacts synergistically with cyclic AMP to regulate expression of neurotransmitter biosynthetic genes. |journal=J. Biol. Chem. |volume=272 |issue= 43 |pages= 27382–92 |year= 1997 |pmid= 9341190 |doi=
*cite journal | author=Wang SM, Zwaan J, Mullaney PB, "et al." |title=Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. |journal=Am. J. Hum. Genet. |volume=63 |issue= 2 |pages= 517–25 |year= 1998 |pmid= 9683611 |doi=
*cite journal | author=Swanson DJ, Adachi M, Lewis EJ |title=The homeodomain protein Arix promotes protein kinase A-dependent activation of the dopamine beta-hydroxylase promoter through multiple elements and interaction with the coactivator cAMP-response element-binding protein-binding protein. |journal=J. Biol. Chem. |volume=275 |issue= 4 |pages= 2911–23 |year= 2000 |pmid= 10644760 |doi=
*cite journal | author=Flora A, Lucchetti H, Benfante R, "et al." |title=Sp proteins and Phox2b regulate the expression of the human Phox2a gene. |journal=J. Neurosci. |volume=21 |issue= 18 |pages= 7037–45 |year= 2001 |pmid= 11549713 |doi=
*cite journal | author=Nakano M, Yamada K, Fain J, "et al." |title=Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 315–20 |year= 2001 |pmid= 11600883 |doi= 10.1038/ng744
*cite journal | author=Strømme P, Mangelsdorf ME, Shaw MA, "et al." |title=Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. |journal=Nat. Genet. |volume=30 |issue= 4 |pages= 441–5 |year= 2002 |pmid= 11889467 |doi= 10.1038/ng862
*cite journal | author=Adachi M, Lewis EJ |title=The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status. |journal=J. Biol. Chem. |volume=277 |issue= 25 |pages= 22915–24 |year= 2002 |pmid= 11943777 |doi= 10.1074/jbc.M201695200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Rychlik JL, Gerbasi V, Lewis EJ |title=The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA. |journal=J. Biol. Chem. |volume=278 |issue= 49 |pages= 49652–60 |year= 2004 |pmid= 14506227 |doi= 10.1074/jbc.M308577200
*cite journal | author=Sasaki A, Kanai M, Kijima K, "et al." |title=Molecular analysis of congenital central hypoventilation syndrome. |journal=Hum. Genet. |volume=114 |issue= 1 |pages= 22–6 |year= 2004 |pmid= 14566559 |doi= 10.1007/s00439-003-1036-z
*cite journal | author=Yazdani A, Chung DC, Abbaszadegan MR, "et al." |title=A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). |journal=Am. J. Ophthalmol. |volume=136 |issue= 5 |pages= 861–5 |year= 2003 |pmid= 14597037 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Jiang Y, Matsuo T, Fujiwara H, "et al." |title=ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy. |journal=Acta Med. Okayama |volume=59 |issue= 2 |pages= 55–62 |year= 2006 |pmid= 16049556 |doi=
*cite journal | author=Bachetti T, Borghini S, Ravazzolo R, Ceccherini I |title=An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. |journal=Gene Expr. |volume=12 |issue= 3 |pages= 137–49 |year= 2006 |pmid= 16127999 |doi=
*cite journal | author=Hsieh MM, Lupas G, Rychlik J, "et al." |title=ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a. |journal=J. Neurochem. |volume=94 |issue= 6 |pages= 1719–27 |year= 2005 |pmid= 16156742 |doi= 10.1111/j.1471-4159.2005.03333.x
*cite journal | author=Rychlik JL, Hsieh M, Eiden LE, Lewis EJ |title=Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type. |journal=J. Mol. Neurosci. |volume=27 |issue= 3 |pages= 281–92 |year= 2006 |pmid= 16280598 |doi=

External links

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