IRX5 explained

Iroquois-class homeodomain protein IRX-5, also known as Iroquois homeobox protein 5, is a protein that in humans is encoded by the IRX5 gene.^{[1] [2]}

Function

IRX5 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.^[1] First described in a 2012 study by Reversade and colleagues, the loss of IRX5 in humans causes Hamamy Syndrome, a recessive developmental disorder mainly affecting the heart, long bones, and craniofacial structures. ^[3]

Further reading

• Lewis MT, Ross S, Strickland PA, Snyder CJ, Daniel CW . Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast . Cell and Tissue Research . 296 . 3 . 549–54 . June 1999 . 10370142 . 10.1007/s004410051316 . 37046813 .
• Bruneau BG . [Irx5: a transcription factor that regulates the cardiac repolarization gradient] . Médecine/Sciences . 22 . 3 . 231–2 . March 2006 . 16527195 . 10.1051/medsci/2006223231 . free .
• Myrthue A, Rademacher BL, Pittsenbarger J, Kutyba-Brooks B, Gantner M, Qian DZ, Beer TM . The iroquois homeobox gene 5 is regulated by 1,25-dihydroxyvitamin D3 in human prostate cancer and regulates apoptosis and the cell cycle in LNCaP prostate cancer cells . Clinical Cancer Research . 14 . 11 . 3562–70 . June 2008 . 18519790 . 10.1158/1078-0432.CCR-07-4649 . free .
• Kanno S, Kuzuoka H, Sasao S, Hong Z, Lan L, Nakajima S, Yasui A . A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses . The EMBO Journal . 26 . 8 . 2094–103 . April 2007 . 17396150 . 1852789 . 10.1038/sj.emboj.7601663 .

Notes and References

1. Web site: Entrez Gene: iroquois homeobox 1.
2. Ogura K, Matsumoto K, Kuroiwa A, Isobe T, Otoguro T, Jurecic V, Baldini A, Matsuda Y, Ogura T . 6 . Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes . Cytogenetics and Cell Genetics . 92 . 3–4 . 320–5 . 2001 . 11435706 . 10.1159/000056921 . 46509502 .
3. Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B . 6 . Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 . Nature Genetics . 44 . 6 . 709–13 . May 2012 . 22581230 . 10.1038/ng.2259 . 5535474 .