Biology:Aristaless related homeobox

Short description: Protein-coding gene in humans

Generic protein structure example

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

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).

See also

• homeobox

Further reading

• "Nomenclature guidelines for X-linked mental retardation". Am. J. Med. Genet. 43 (1–2): 383–91. 1992. doi:10.1002/ajmg.1320430159. PMID 1605216. 
• "Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21". Clin. Genet. 50 (4): 176–83. 1997. doi:10.1111/j.1399-0004.1996.tb02622.x. PMID 9001795. 
• Suri M (2005). "The phenotypic spectrum of ARX mutations". Developmental Medicine & Child Neurology 47 (2): 133–7. doi:10.1017/S001216220500023X. PMID 15707237. 
• "X-linked mental retardation with dystonic movements of the hands". Am. J. Med. Genet. 30 (1–2): 251–62. 1988. doi:10.1002/ajmg.1320300127. PMID 3177452. 
• "Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)". Am. J. Med. Genet. 64 (1): 89–96. 1996. doi:10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O. PMID 8826457. 
• "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. doi:10.1002/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O. PMID 8826462. 
• "Linkage analysis in three families with nonspecific X-linked mental retardation". Am. J. Med. Genet. 64 (1): 137–46. 1996. doi:10.1002/(SICI)1096-8628(19960712)64:1<137::AID-AJMG24>3.0.CO;2-N. PMID 8826464. 
• "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. doi:10.1002/(SICI)1096-8628(19990730)85:3<276::AID-AJMG18>3.0.CO;2-I. PMID 10398243. 
• "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. doi:10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H. PMID 10398246. 
• "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. doi:10.1007/s003350010141. PMID 10920247. 
• "Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy". Nat. Genet. 30 (4): 441–5. 2002. doi:10.1038/ng862. PMID 11889467. 
• "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. doi:10.1093/hmg/11.8.981. PMID 11971879. 
• "Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX". Brain Dev. 24 (5): 266–8. 2002. doi:10.1016/S0387-7604(02)00079-7. PMID 12142061. 
• "X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX". Neurology 59 (3): 348–56. 2002. doi:10.1212/wnl.59.3.348. PMID 12177367. 
• "Human ARX gene: genomic characterization and expression". Mol. Genet. Metab. 77 (1–2): 179–88. 2003. doi:10.1016/S1096-7192(02)00126-9. PMID 12359145. 
• "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. doi:10.1002/ajmg.10714. PMID 12376946. 
• "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. doi:10.1002/ajmg.10628. PMID 12376949. 
• "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. doi:10.1038/ng1009. PMID 12379852. 

External links

• aristaless+related+homeobox+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human ARX genome location and ARX gene details page in the UCSC Genome Browser.

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