Aristaless related homeobox explained

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

Function

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.

Clinical significance

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

See also

• homeobox

Further reading

• Mulley JC, Kerr B, Stevenson R, Lubs H . Nomenclature guidelines for X-linked mental retardation . Am. J. Med. Genet. . 43 . 1–2 . 383–91 . 1992 . 1605216 . 10.1002/ajmg.1320430159 .
• Häne B, Schroer RJ, Arena JF . Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21 . Clin. Genet. . 50 . 4 . 176–83 . 1997 . 9001795 . 10.1111/j.1399-0004.1996.tb02622.x . 33109092 . etal.
• Suri M . The phenotypic spectrum of ARX mutations . Developmental Medicine & Child Neurology . 47 . 2 . 133–7 . 2005 . 15707237 . 10.1017/S001216220500023X . 2024-07-25 .
• Partington MW, Mulley JC, Sutherland GR . Grant Robert Sutherland . X-linked mental retardation with dystonic movements of the hands . Am. J. Med. Genet. . 30 . 1–2 . 251–62 . 1988 . 3177452 . 10.1002/ajmg.1320300127 . etal.
• Schutz CK, Ives EJ, Chalifoux M . Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38) . Am. J. Med. Genet. . 64 . 1 . 89–96 . 1996 . 8826457 . 10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O . etal.
• Holinski-Feder E, Golla A, Rost I . Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33) . Am. J. Med. Genet. . 64 . 1 . 125–30 . 1996 . 8826462 . 10.1002/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O . etal.
• Claes S, Gu XX, Legius E . Linkage analysis in three families with nonspecific X-linked mental retardation . Am. J. Med. Genet. . 64 . 1 . 137–46 . 1996 . 8826464 . 10.1002/(SICI)1096-8628(19960712)64:1<137::AID-AJMG24>3.0.CO;2-N . etal.
• Jemaa LB, des Portes V, Zemni R . 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 . 2000 . 10398243 . 10.1002/(SICI)1096-8628(19990730)85:3<276::AID-AJMG18>3.0.CO;2-I . etal.
• Hamel BC, Smits AP, van den Helm B . 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 . 2000 . 10398246 . 10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H . etal.
• Blair HJ, Reed V, Gormally E . 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 . 2000 . 10920247 . 10.1007/s003350010141 . 675465 . etal.
• Strømme P, Mangelsdorf ME, Shaw MA . Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy . Nat. Genet. . 30 . 4 . 441–5 . 2002 . 11889467 . 10.1038/ng862 . 12822090 . etal.
• Bienvenu T, Poirier K, Friocourt G . 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 . 2003 . 11971879 . 10.1093/hmg/11.8.981 . etal. free .
• Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J . Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX . Brain Dev. . 24 . 5 . 266–8 . 2002 . 12142061 . 10.1016/S0387-7604(02)00079-7 . 32508324 .
• Scheffer IE, Wallace RH, Phillips FL . X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX . Neurology . 59 . 3 . 348–56 . 2002 . 12177367 . 10.1212/wnl.59.3.348. 46362550 . etal.
• Ohira R, Zhang YH, Guo W . Human ARX gene: genomic characterization and expression . Mol. Genet. Metab. . 77 . 1–2 . 179–88 . 2003 . 12359145 . 10.1016/S1096-7192(02)00126-9 . etal.
• Turner G, Partington M, Kerr B . 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 . 2003 . 12376946 . 10.1002/ajmg.10714 . etal.
• Frints SG, Froyen G, Marynen P . 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 . 2003 . 12376949 . 10.1002/ajmg.10628 . etal. free .
• Kitamura K, Yanazawa M, Sugiyama N . 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 . 2002 . 12379852 . 10.1038/ng1009 . 6666397 . etal.

Notes and References

1. Web site: Entrez Gene: ARX aristaless related homeobox.