HOXD4

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.

• Homeobox

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• {{cite journal | vauthors = Cianetti L, Di Cristofaro A, Zappavigna V, Bottero L, Boccoli G, Testa U, Russo G, Boncinelli E, Peschle C | title = Molecular mechanisms underlying the expression of the human HOX-5.1 gene | journal = Nucleic Acids Res. | volume = 18 | issue = 15 | pages = 4361–8 | year = 1990 | pmid = 1975093 | pmc = 331252 | doi = 10.1093/nar/18.15.4361 }}
• {{cite journal | vauthors = Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A | title = Organization of human class I homeobox genes | journal = Genome | volume = 31 | issue = 2 | pages = 745–56 | year = 1990 | pmid = 2576652 | doi = 10.1139/g89-133 }}
• {{cite journal | vauthors = Mavilio F, Simeone A, Giampaolo A, Faiella A, Zappavigna V, Acampora D, Poiana G, Russo G, Peschle C, Boncinelli E | title = Differential and stage-related expression in embryonic tissues of a new human homoeobox gene | journal = Nature | volume = 324 | issue = 6098 | pages = 664–8 | year = 1987 | pmid = 2879245 | doi = 10.1038/324664a0 | s2cid = 4368394 | hdl = 11380/1237373 | hdl-access = free }}
• {{cite journal | vauthors = Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F | title = The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins | journal = EMBO J. | volume = 13 | issue = 14 | pages = 3339–47 | year = 1994 | pmid = 7913891 | pmc = 395231 | doi = 10.1002/j.1460-2075.1994.tb06636.x}}
• {{cite journal | vauthors = Kim YH, Choi CY, Lee SJ, Conti MA, Kim Y | title = Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors | journal = J. Biol. Chem. | volume = 273 | issue = 40 | pages = 25875–9 | year = 1998 | pmid = 9748262 | doi = 10.1074/jbc.273.40.25875 | doi-access = free }}
• {{cite journal | vauthors = Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W | title = Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster | journal = Am. J. Hum. Genet. | volume = 65 | issue = 1 | pages = 104–10 | year = 1999 | pmid = 10364522 | pmc = 1378080 | doi = 10.1086/302467 }}
• {{cite journal | vauthors = Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS | title = PBX and MEIS as Non-DNA-Binding Partners in Trimeric Complexes with HOX Proteins | journal = Mol. Cell. Biol. | volume = 19 | issue = 11 | pages = 7577–88 | year = 1999 | pmid = 10523646 | pmc = 84774 | doi = 10.1128/mcb.19.11.7577}}
• {{cite journal | vauthors = Limongi MZ, Pelliccia F, Gaddini L, Rocchi A | title = Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1 | journal = Cytogenet. Cell Genet. | volume = 90 | issue = 1–2 | pages = 151–3 | year = 2000 | pmid = 11060466 | doi = 10.1159/000015651 | s2cid = 35579702 }}
• {{cite journal | vauthors = Shen WF, Krishnan K, Lawrence HJ, Largman C | title = The HOX Homeodomain Proteins Block CBP Histone Acetyltransferase Activity | journal = Mol. Cell. Biol. | volume = 21 | issue = 21 | pages = 7509–22 | year = 2001 | pmid = 11585930 | pmc = 99922 | doi = 10.1128/MCB.21.21.7509-7522.2001 }}
• {{cite journal | vauthors = Goodman FR, Majewski F, Collins AL, Scambler PJ | title = A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly | journal = Am. J. Hum. Genet. | volume = 70 | issue = 2 | pages = 547–55 | year = 2002 | pmid = 11778160 | pmc = 384929 | doi = 10.1086/338921 }}
• {{cite journal | vauthors = Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N | title = Complete mutation analysis panel of the 39 human HOX genes | journal = Teratology | volume = 65 | issue = 2 | pages = 50–62 | year = 2002 | pmid = 11857506 | doi = 10.1002/tera.10009 }}
• {{cite journal | vauthors = van Scherpenzeel Thim V, Remacle S, Picard J, Cornu G, Gofflot F, Rezsohazy R, Verellen-Dumoulin C | title = Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function | journal = Hum. Mutat. | volume = 25 | issue = 4 | pages = 384–95 | year = 2006 | pmid = 15776434 | doi = 10.1002/humu.20155 | s2cid = 1549455 }}

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• {{MeshName|HOXD4+protein,+human}}

{{Transcription factors|g3}}

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Category:Transcription factors

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