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Protein-coding gene in humans
Homeobox protein Hox-D11 is a protein that in humans is encoded by the HOXD11 gene .[ 5] [ 6] [ 7]
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 in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in axial skeleton development and forelimb morphogenesis.[ 7] [ 8] [ 9] [ 10]
^ a b c GRCh38: Ensembl release 89: ENSG00000128713 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042499 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
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^ a b "HOXD11 homeobox D11" .
^ Davis AP, Capecchi MR (1 August 1994). "Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11" . Development . 120 (8): 2187–98. doi :10.1242/dev.120.8.2187 . PMID 7925020 .
^ Davis AP, Witte DP, Hsieh-Li HM, Potter SS, Capecchi MR (June 1995). "Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11". Nature . 375 (6534): 791–5. Bibcode :1995Natur.375..791D . doi :10.1038/375791a0 . PMID 7596412 . S2CID 4256901 .
^ Davis AP, Capecchi MR (1 April 1996). "A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse" . Development . 122 (4): 1175–85. doi :10.1242/dev.122.4.1175 . PMID 8620844 .
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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 . PMC 1378080 . PMID 10364522 .
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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 . PMC 384929 . PMID 11778160 .
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This article incorporates text from the United States National Library of Medicine , which is in the public domain .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group C bHLH-PAS Group D Group E Group F bHLH-COE
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors