Aristaless related homeobox
| Aristaless related homeobox | |||||||||||
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| Identifiers | |||||||||||
| Symbols | ARX ; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRXS1; PRTS | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 68998 | ||||||||||
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| Species | Human | Mouse | |||||||||
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| RefSeq (protein) | n/a | n/a | |||||||||
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Aristaless related homeobox, also known as ARX is a protein associated with mental retardation and lissencephaly.[1]
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. Mutations in this gene cause X-linked mental retardation and epilepsy, as well as hypoglycemia (in mice).[1]
See also
References
Further reading
- 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. 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. PMID 9001795.
- Suri M (2005). "The phenotypic spectrum of ARX mutations". Developmental medicine and child neurology. 47 (2): 133–7. 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. 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. 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. 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. 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. 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. 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. 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. 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
- aristaless+related+homeobox+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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