Aristaless related homeobox

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Aristaless related homeobox
Identifiers
Symbols ARX ; CT121; EIEE1; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS
External IDs OMIM300382 MGI1097716 HomoloGene68998 GeneCards: ARX Gene
RNA expression pattern
PBB GE ARX gnf1h01283 s at tn.png
PBB GE ARX gnf1h01284 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 170302 11878
Ensembl ENSG00000004848 ENSMUSG00000035277
UniProt Q96QS3 O35085
RefSeq (mRNA) NM_139058 NM_001305940
RefSeq (protein) NP_620689 NP_001292869
Location (UCSC) Chr X:
25 – 25.02 Mb
Chr X:
93.29 – 93.3 Mb
PubMed search [1] [2]

Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.[1]

Function[edit]

This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. [1]

Clinical significance[edit]

Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice).[1]

See also[edit]

References[edit]

Further reading[edit]

  • Mulley JC, Kerr B, Stevenson R, Lubs H (1992). "Nomenclature guidelines for X-linked mental retardation". Am. J. Med. Genet. 43 (1–2): 383–91. doi:10.1002/ajmg.1320430159. PMID 1605216. 
  • Häne B, Schroer RJ, Arena JF et al. (1997). "Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21". Clin. Genet. 50 (4): 176–83. doi:10.1111/j.1399-0004.1996.tb02622.x. PMID 9001795. 
  • Suri M (2005). "The phenotypic spectrum of ARX mutations". Developmental medicine and child neurology 47 (2): 133–7. doi:10.1017/S001216220500023X. PMID 15707237. 
  • Partington MW, Mulley JC, Sutherland GR et al. (1988). "X-linked mental retardation with dystonic movements of the hands". Am. J. Med. Genet. 30 (1–2): 251–62. doi:10.1002/ajmg.1320300127. PMID 3177452. 
  • Schutz CK, Ives EJ, Chalifoux M et al. (1996). "Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)". Am. J. Med. Genet. 64 (1): 89–96. doi:10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O. PMID 8826457. 
  • Holinski-Feder E, Golla A, Rost I et al. (1996). "Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)". Am. J. Med. Genet. 64 (1): 125–30. doi:10.1002/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O. PMID 8826462. 
  • Claes S, Gu XX, Legius E et al. (1996). "Linkage analysis in three families with nonspecific X-linked mental retardation". Am. J. Med. Genet. 64 (1): 137–46. doi:10.1002/(SICI)1096-8628(19960712)64:1<137::AID-AJMG24>3.0.CO;2-N. PMID 8826464. 
  • Jemaa LB, des Portes V, Zemni R et al. (2000). "Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)". Am. J. Med. Genet. 85 (3): 276–82. doi:10.1002/(SICI)1096-8628(19990730)85:3<276::AID-AJMG18>3.0.CO;2-I. PMID 10398243. 
  • Hamel BC, Smits AP, van den Helm B et al. (2000). "Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis". Am. J. Med. Genet. 85 (3): 290–304. doi:10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H. PMID 10398246. 
  • Blair HJ, Reed V, Gormally E et al. (2000). "Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosome". Mamm. Genome 11 (8): 710–2. doi:10.1007/s003350010141. PMID 10920247. 
  • 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. doi:10.1038/ng862. PMID 11889467. 
  • Bienvenu T, Poirier K, Friocourt G et al. (2003). "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation". Hum. Mol. Genet. 11 (8): 981–91. doi:10.1093/hmg/11.8.981. PMID 11971879. 
  • Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J (2002). "Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX". Brain Dev. 24 (5): 266–8. doi:10.1016/S0387-7604(02)00079-7. PMID 12142061. 
  • Scheffer IE, Wallace RH, Phillips FL et al. (2002). "X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX". Neurology 59 (3): 348–56. doi:10.1212/wnl.59.3.348. PMID 12177367. 
  • Ohira R, Zhang YH, Guo W et al. (2003). "Human ARX gene: genomic characterization and expression". Mol. Genet. Metab. 77 (1–2): 179–88. doi:10.1016/S1096-7192(02)00126-9. PMID 12359145. 
  • Turner G, Partington M, Kerr B et al. (2003). "Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation". Am. J. Med. Genet. 112 (4): 405–11. doi:10.1002/ajmg.10714. PMID 12376946. 
  • Frints SG, Froyen G, Marynen P et al. (2003). "Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome". Am. J. Med. Genet. 112 (4): 427–8. doi:10.1002/ajmg.10628. PMID 12376949. 
  • Kitamura K, Yanazawa M, Sugiyama N et al. (2002). "Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans". Nat. Genet. 32 (3): 359–69. doi:10.1038/ng1009. PMID 12379852. 

External links[edit]

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