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 exact role of this gene has not been determined.[3]
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Zappavigna V, Sartori D, Mavilio F (1994). "Specificity of HOX protein function depends on DNA-protein and protein-protein interactions, both mediated by the homeo domain". Genes Dev. 8 (6): 732–44. doi:10.1101/gad.8.6.732. PMID7926763.
Phelan ML, Featherstone MS (1997). "Distinct HOX N-terminal arm residues are responsible for specificity of DNA recognition by HOX monomers and HOX.PBX heterodimers". J. Biol. Chem. 272 (13): 8635–43. doi:10.1074/jbc.272.13.8635. PMID9079695.
de la Cruz CC, Der-Avakian A, Spyropoulos DD, Tieu DD, Carpenter EM (2000). "Targeted disruption of Hoxd9 and Hoxd10 alters locomotor behavior, vertebral identity, and peripheral nervous system development". Dev. Biol. 216 (2): 595–610. doi:10.1006/dbio.1999.9528. PMID10642795.
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. PMID11060466.
Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID11857506.
Nguyen NC, Hirose T, Nakazawa M, Kobata T, Nakamura H, Nishioka K, Nakajima T (2002). "Expression of HOXD9 in fibroblast-like synoviocytes from rheumatoid arthritis patients". Int. J. Mol. Med. 10 (1): 41–8. doi:10.3892/ijmm.10.1.41. PMID12060849.
Méchine-Neuville A, Lefebvre O, Bellocq JP, Kedinger M, Simon-Assmann P (2003). "[Increased expression of HOXA9 gene in Hirschsprung disease]". Gastroenterol. Clin. Biol. 26 (12): 1110–7. PMID12520199.
Liu DB, Gu ZD, Cao XZ, Liu H, Li JY (2005). "Immunocytochemical detection of HoxD9 and Pbx1 homeodomain protein expression in Chinese esophageal squamous cell carcinomas". World J. Gastroenterol. 11 (10): 1562–6. doi:10.3748/wjg.v11.i10.1562. PMID15770739.