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 and Brachydactyly. The product of the mouse Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.
D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E (May 1991). "EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2". Genomics10 (1): 43–50. doi:10.1016/0888-7543(91)90482-T. PMID1675198.
Sarfarazi M, Akarsu AN, Sayli BS (Aug 1995). "Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker". Human Molecular Genetics4 (8): 1453–8. doi:10.1093/hmg/4.8.1453. PMID7581388.
Muragaki Y, Mundlos S, Upton J, Olsen BR (Apr 1996). "Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13". Science272 (5261): 548–51. doi:10.1126/science.272.5261.548. PMID8614804.
Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M (Jul 1996). "Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families". Human Molecular Genetics5 (7): 945–52. doi:10.1093/hmg/5.7.945. PMID8817328.
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". Cytogenetics and Cell Genetics90 (1-2): 151–3. doi:10.1159/000015651. PMID11060466.
Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M (May 2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nature Biotechnology19 (5): 440–5. doi:10.1038/88107. PMID11329013.
Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V (Apr 2003). "An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function". Development130 (8): 1701–12. doi:10.1242/dev.00396. PMID12620993.