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Gene Review

HOXD12  -  homeobox D12

Homo sapiens

Synonyms: HOX4H, Homeobox protein Hox-4H, Homeobox protein Hox-D12
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High impact information on HOXD12

  • In particular, we have characterized the limb defects observed in mice with independent targeted disruptions of hoxd-12 and hoxd-13 [1].
  • Animals defective for hoxd-12 are viable, fertile, and appear outwardly normal yet have minor autopodal defects in the forelimb which include a reduction in the bone length of metacarpals and phalanges, and a malformation of the distal carpal bone d4 [1].
  • Two of them, HOX41 and HOX4H, clearly belong to the HOX gene family, in particular to homology groups 1 and 2, and possibly represent the most 5' HOX4 homeoboxes [2].
  • Screening of mutation by direct sequencing of candidate genes including Sonic hedgehog, HOXD-11, and HOXD-12 was unable to identify a disease-causing mutation [3].

Associations of HOXD12 with chemical compounds

  • Members of the 11, 12, and 13 paralogs do not cooperatively bind DNA with Pbx1a, despite the presence of tryptophan residues N-terminal to the homeodomain in Hoxd-12 and Hoxd-13 [4].


  1. A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse. Davis, A.P., Capecchi, M.R. Development (1996) [Pubmed]
  2. EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. D'Esposito, M., Morelli, F., Acampora, D., Migliaccio, E., Simeone, A., Boncinelli, E. Genomics (1991) [Pubmed]
  3. A pair of sibs with tibial hemimelia born to phenotypically normal parents. Matsuyama, J., Mabuchi, A., Zhang, J., Iida, A., Ikeda, T., Kimizuka, M., Ikegawa, S. J. Hum. Genet. (2003) [Pubmed]
  4. The Abd-B-like Hox homeodomain proteins can be subdivided by the ability to form complexes with Pbx1a on a novel DNA target. Shen, W.F., Rozenfeld, S., Lawrence, H.J., Largman, C. J. Biol. Chem. (1997) [Pubmed]
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