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. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]

This region is known to undergo somatic cell DNA recombination with another region, the nucleoporin 98kDa (NUP98) recombination region, located on the p arm of chromosome 11. This region is located several kilobases upstream of the homeobox D13 (HOXD13) gene. Recombination between these two regions results in a translocation known as the t(2;11)(q31;p15) rearrangement, and can produce an in-frame fusion transcript involving the nucleoporin 98kDa (NUP98) gene and homeobox D13 gene. The fusion NUP98(exon 12)-HOXD13(exon 2) transcript has been observed in some individuals with acute myeloid leukemia (AML). The exonic numbering of the fusion transcript is consistent with the exon designations given in Arai et al., 2000 (PMID:10995009). [provided by RefSeq, Jan 2016]