SHOX (Short Stature Homeobox) belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in SHOX are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. SHOX is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for SHOX.
