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Homeobox D10
Identifiers
Symbols HOXD10; HOX4; HOX4E; HOX4D; Hox-4.4
External IDs OMIM142984 MGI96202 HomoloGene1619 GeneCards: HOXD10 Gene
RNA expression pattern
PBB GE HOXD10 207373 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3236 15430
Ensembl ENSG00000128710 ENSMUSG00000050368
UniProt P28358 P28359
RefSeq (mRNA) NM_002148 NM_013554
RefSeq (protein) NP_002139 NP_038582
Location (UCSC) Chr 2:
176.69 - 176.69 Mb
Chr 2:
74.49 - 74.5 Mb
PubMed search [1] [2]

Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.[1]

Contents

Function

This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development.

Clinical significance

Mutations in this gene have been associated with Wilms' tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease.[1]

See also

References

Further reading

  • Ma L, Teruya-Feldstein J, Weinberg RA (October 2007). "Tumour invasion and metastasis initiated by microRNA-10b in breast cancer". Nature 449 (7163): 682–8. doi:10.1038/nature06174. PMID 17898713.  
  • Tabin CJ (1993). "Why we have (only) five fingers per hand: hox genes and the evolution of paired limbs.". Development 116 (2): 289–96. PMID 1363084.  
  • Goodman FR (2003). "Limb malformations and the human HOX genes.". Am. J. Med. Genet. 112 (3): 256–65. doi:10.1002/ajmg.10776. PMID 12357469.  
  • Redline RW, Williams AJ, Patterson P, Collins T (1992). "Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts.". Genomics 13 (2): 425–30. doi:10.1016/0888-7543(92)90263-R. PMID 1351871.  
  • Scott MP (1992). "Vertebrate homeobox gene nomenclature.". Cell 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.  
  • Zappavigna V, Renucci A, Izpisúa-Belmonte JC, et al. (1992). "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities.". Embo J. 10 (13): 4177–87. PMID 1756725.  
  • McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes.". Genomics 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.  
  • Peverali FA, D'Esposito M, Acampora D, et al. (1991). "Expression of HOX homeogenes in human neuroblastoma cell culture lines.". Differentiation 45 (1): 61–9. doi:10.1111/j.1432-0436.1990.tb00458.x. PMID 1981366.  
  • Acampora D, D'Esposito M, Faiella A, et al. (1990). "The human HOX gene family.". Nucleic Acids Res. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMID 2574852.  
  • Boncinelli E, Acampora D, Pannese M, et al. (1990). "Organization of human class I homeobox genes.". Genome 31 (2): 745–56. PMID 2576652.  
  • Guazzi S, Lonigro R, Pintonello L, et al. (1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins.". Embo J. 13 (14): 3339–47. PMID 7913891.  
  • Redline RW, Hudock P, MacFee M, Patterson P (1994). "Expression of AbdB-type homeobox genes in human tumors.". Lab. Invest. 71 (5): 663–70. PMID 7967520.  
  • Wulfsberg EA, Mirkinson LJ, Meister SJ (1993). "Autosomal dominant tetramelic postaxial oligodactyly.". Am. J. Med. Genet. 46 (5): 579–83. doi:10.1002/ajmg.1320460524. PMID 8100684.  
  • Osborne J, Hu C, Hawley C, et al. (1998). "Expression of HOXD10 gene in normal endometrium and endometrial adenocarcinoma.". J. Soc. Gynecol. Investig. 5 (5): 277–80. doi:10.1016/S1071-5576(98)00020-3. PMID 9773404.  
  • Del Campo M, Jones MC, Veraksa AN, et al. (1999). "Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.". Am. J. Hum. Genet. 65 (1): 104–10. doi:10.1086/302467. PMID 10364522.  
  • Shanmugam K, Green NC, Rambaldi I, et al. (1999). "PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins.". Mol. Cell. Biol. 19 (11): 7577–88. PMID 10523646.  
  • Limongi MZ, Pelliccia F, Gaddini L, Rocchi A (2000). "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1.". Cytogenet. Cell Genet. 90 (1-2): 151–3. doi:10.1159/000015651. PMID 11060466.  
  • Shen WF, Krishnan K, Lawrence HJ, Largman C (2001). "The HOX homeodomain proteins block CBP histone acetyltransferase activity.". Mol. Cell. Biol. 21 (21): 7509–22. doi:10.1128/MCB.21.21.7509-7522.2001. PMID 11585930.  
  • Goodman FR, Majewski F, Collins AL, Scambler PJ (2002). "A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.". Am. J. Hum. Genet. 70 (2): 547–55. doi:10.1086/338921. PMID 11778160.  
  • Kosaki K, Kosaki R, Suzuki T, et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes.". Teratology 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.  

External links

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

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