IRX5 is a member of theIroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[5] First described in a 2012 study byReversade and colleagues, the loss of IRX5 in humans causes Hamamy Syndrome, a recessive developmental disorder mainly affecting the heart, long bones, and craniofacial structures.[7]
^Ogura K, Matsumoto K, Kuroiwa A, Isobe T, Otoguro T, Jurecic V, et al. (2001). "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes".Cytogenetics and Cell Genetics.92 (3–4):320–5.doi:10.1159/000056921.PMID11435706.S2CID46509502.
^Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, et al. (May 2012). "Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1".Nature Genetics.44 (6):709–13.doi:10.1038/ng.2259.hdl:20.500.12684/3752.PMID22581230.S2CID5535474.
