Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
MNX1
Introduction
Motor neuron and pancreas homeobox 1 (MNX1), also known as Homeobox HB9 (HLXB9), is a human protein encoded by the MNX1 gene.[1]
Clinical significance
Clinical significance
Mutations in the MNX1 gene are associated with Currarino syndrome.[2]
References
References
- ↑ “Entrez Gene: HLXB9 homeobox HB9”.
- ↑ Merello E, De Marco P, Ravegnani M, Riccipetitoni G, Cama A, Capra V (2013). “Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases”. Eur J Med Genet. 56 (12): 648–54. doi:10.1016/j.ejmg.2013.09.011. PMID 24095820.
Further reading
Further reading
- Catala M (2002). “Genetic control of caudal development”. Clin. Genet. 61 (2): 89–96. doi:10.1034/j.1399-0004.2002.610202.x. PMID 11940082.
- Deguchi Y, Kehrl JH (1991). “Nucleotide sequence of a novel diverged human homeobox gene encodes a DNA binding protein”. Nucleic Acids Res. 19 (13): 3742. doi:10.1093/nar/19.13.3742. PMCÂ 328407. PMIDÂ 1677181.
- Deguchi Y, Kehrl JH (1991). “Selective expression of two homeobox genes in CD34-positive cells from human bone marrow”. Blood. 78 (2): 323–8. PMID 1712647.
- Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, Burn J, Strachan T (1995). “A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36”. Nat. Genet. 11 (1): 93–5. doi:10.1038/ng0995-93. PMID 7550324.
- Harrison KA, Druey KM, Deguchi Y, Tuscano JM, Kehrl JH (1994). “A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues”. J. Biol. Chem. 269 (31): 19968–75. PMID 7914194.
- Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T (1998). “A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis”. Nat. Genet. 20 (4): 358–61. doi:10.1038/3828. PMID 9843207.
- Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P (1999). “A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36”. Genomics. 57 (3): 342–51. doi:10.1006/geno.1999.5796. PMID 10329000.
- Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW (2000). “Involvement of the HLXB9 homeobox gene in Currarino syndrome”. Am. J. Hum. Genet. 66 (1): 312–9. doi:10.1086/302723. PMC 1288336. PMID 10631160.
- Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T (2000). “Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene”. Am. J. Hum. Genet. 66 (5): 1504–15. doi:10.1086/302899. PMC 1378009. PMID 10749657.
- Köchling J, Karbasiyan M, Reis A (2001). “Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome”. Eur. J. Hum. Genet. 9 (8): 599–605. doi:10.1038/sj.ejhg.5200683. PMID 11528505.
- Nagel S, Scherr M, Quentmeier H, Kaufmann M, Zaborski M, Drexler HG, MacLeod RA (2005). “HLXB9 activates IL6 in Hodgkin lymphoma cell lines and is regulated by PI3K signalling involving E2F3”. Leukemia. 19 (5): 841–6. doi:10.1038/sj.leu.2403716. PMID 15772702.
- Cheng J, Kapranov P, Drenkow J, Dike S, Brubaker S, Patel S, Long J, Stern D, Tammana H, Helt G, Sementchenko V, Piccolboni A, Bekiranov S, Bailey DK, Ganesh M, Ghosh S, Bell I, Gerhard DS, Gingeras TR (2005). “Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution”. Science. 308 (5725): 1149–54. doi:10.1126/science.1108625. PMID 15790807.
- Hori Y, Gu X, Xie X, Kim SK (2005). “Differentiation of insulin-producing cells from human neural progenitor cells”. PLoS Med. 2 (4): e103. doi:10.1371/journal.pmed.0020103. PMCÂ 1087208. PMIDÂ 15839736.
- Kapranov P, Drenkow J, Cheng J, Long J, Helt G, Dike S, Gingeras TR (2005). “Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays”. Genome Res. 15 (7): 987–97. doi:10.1101/gr.3455305. PMC 1172043. PMID 15998911.
- von Bergh AR, van Drunen E, van Wering ER, van Zutven LJ, Hainmann I, Lönnerholm G, Meijerink JP, Pieters R, Beverloo HB (2006). “High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9”. Genes Chromosomes Cancer. 45 (8): 731–9. doi:10.1002/gcc.20335. PMID 16646086.
- Kim IS, Oh SY, Choi SJ, Kim JH, Park KH, Park HK, Kim JW, Ki CS (2007). “Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome”. J. Hum. Genet. 52 (8): 698–701. doi:10.1007/s10038-007-0173-y. PMID 17612791.
External links
External links
- MNX1+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.