HOXA13

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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n/a

RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.[1][2][3]

Function

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.[3]

Clinical significance

Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome , also known as hand-foot-uterus syndrome.[4]

See also

References

  1. McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  2. Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  3. 3.0 3.1 "Entrez Gene: HOXA13 homeobox A13".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  4. Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

Further reading

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  • Goodman FR, Scambler PJ (Jan 2001). "Human HOX gene mutations". Clinical Genetics. 59 (1): 1–11. doi:10.1034/j.1399-0004.2001.590101.x. PMID 11206481.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M (May 2002). "A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?". Human Genetics. 110 (5): 488–94. doi:10.1007/s00439-002-0712-8. PMID 12073020.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Mortlock DP, Innis JW (Feb 1997). "Mutation of HOXA13 in hand-foot-genital syndrome". Nature Genetics. 15 (2): 179–80. doi:10.1038/ng0297-179. PMID 9020844.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. Nov 1998. doi:10.1101/gr.8.11.1097. PMID 9847074.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Post LC, Innis JW (Dec 1999). "Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures". Biology of Reproduction. 61 (6): 1402–8. doi:10.1095/biolreprod61.6.1402. PMID 10569982.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • de Stanchina E, Gabellini D, Norio P, Giacca M, Peverali FA, Riva S, Falaschi A, Biamonti G (Jun 2000). "Selection of homeotic proteins for binding to a human DNA replication origin". Journal of Molecular Biology. 299 (3): 667–80. doi:10.1006/jmbi.2000.3782. PMID 10835276.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ (Jul 2000). "Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome". American Journal of Human Genetics. 67 (1): 197–202. doi:10.1086/302961. PMC 1287077. PMID 10839976.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Zhao Y, Potter SS (Aug 2001). "Functional specificity of the Hoxa13 homeobox". Development. 128 (16): 3197–207. PMID 11688568.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T (Feb 2002). "Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15)". Blood. 99 (4): 1428–33. doi:10.1182/blood.V99.4.1428. PMID 11830496.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (Feb 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE (May 2002). "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome" (PDF). Human Mutation. 19 (5): 573–4. doi:10.1002/humu.9036. PMID 11968094.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Taketani T, Taki T, Ono R, Kobayashi Y, Ida K, Hayashi Y (Aug 2002). "The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9". Genes, Chromosomes & Cancer. 34 (4): 437–43. doi:10.1002/gcc.10077. PMID 12112533.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR (Nov 2002). "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". Journal of Medical Genetics. 39 (11): 852–6. doi:10.1136/jmg.39.11.852. PMC 1735011. PMID 12414828.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

External links

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