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Phox2a

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Title: Phox2a  
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Phox2a

Paired-like homeobox 2a
Identifiers
Symbols  ; ARIX; CFEOM2; FEOM2; NCAM2; PMX2A
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.[1][2][3] 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).[3]

Contents

  • Interactions 1
  • References 2
  • Further reading 3
  • External links 4

Interactions

PHOX2A has been shown to interact with HAND2.[4]

References

  1. ^ Johnson KR, Smith L, Johnson DK, Rhodes J, Rinchik EM, Thayer M, Lewis EJ (Sep 1996). "Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13". Genomics 33 (3): 527–31.  
  2. ^ Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC (Nov 2001). "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2". Nat Genet 29 (3): 315–20.  
  3. ^ a b "Entrez Gene: PHOX2A paired-like (aristaless) homeobox 2a". 
  4. ^ Rychlik, Jennifer L; Gerbasi Vincent; Lewis Elaine J (Dec 2003). "The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA". J. Biol. Chem. (United States) 278 (49): 49652–60.  

Further reading

  • Brunet JF, Pattyn A (2003). "Phox2 genes - from patterning to connectivity". Curr. Opin. Genet. Dev. 12 (4): 435–40.  
  • Merscher S, Bekri S, de Leeuw B, et al. (1997). "A 5.5-Mb high-resolution integrated map of distal 11q13". Genomics 39 (3): 340–7.  
  • Swanson DJ, Zellmer E, Lewis EJ (1997). "The homeodomain protein Arix interacts synergistically with cyclic AMP to regulate expression of neurotransmitter biosynthetic genes". J. Biol. Chem. 272 (43): 27382–92.  
  • Wang SM, Zwaan J, Mullaney PB, et al. (1998). "Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13". Am. J. Hum. Genet. 63 (2): 517–25.  
  • Swanson DJ, Adachi M, Lewis EJ (2000). "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". J. Biol. Chem. 275 (4): 2911–23.  
  • Flora A, Lucchetti H, Benfante R, et al. (2001). "Sp proteins and Phox2b regulate the expression of the human Phox2a gene". J. Neurosci. 21 (18): 7037–45.  
  • Strømme P, Mangelsdorf ME, Shaw MA, et al. (2002). "Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy". Nat. Genet. 30 (4): 441–5.  
  • Adachi M, Lewis EJ (2002). "The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status". J. Biol. Chem. 277 (25): 22915–24.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Rychlik JL, Gerbasi V, Lewis EJ (2004). "The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA". J. Biol. Chem. 278 (49): 49652–60.  
  • Sasaki A, Kanai M, Kijima K, et al. (2004). "Molecular analysis of congenital central hypoventilation syndrome". Hum. Genet. 114 (1): 22–6.  
  • Yazdani A, Chung DC, Abbaszadegan MR, et al. (2003). "A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2)". Am. J. Ophthalmol. 136 (5): 861–5.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7.  
  • Jiang Y, Matsuo T, Fujiwara H, et al. (2006). "ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy". Acta Med. Okayama 59 (2): 55–62.  
  • Bachetti T, Borghini S, Ravazzolo R, Ceccherini I (2006). "An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene". Gene Expr. 12 (3): 137–49.  
  • Hsieh MM, Lupas G, Rychlik J, et al. (2005). "ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a". J. Neurochem. 94 (6): 1719–27.  
  • Rychlik JL, Hsieh M, Eiden LE, Lewis EJ (2006). "Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type". J. Mol. Neurosci. 27 (3): 281–92.  

External links

  • Engle Laboratory CFEOM page
  • GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles
  • OMIM entries on Congenital Fibrosis of the Extraocular Muscles
  • PHOX2A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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