Short-stature homeobox 2, also known ashomeobox protein Og12X orpaired-related homeobox protein SHOT, is aprotein that in humans is encoded by theSHOX2gene.[5][6][7]
SHOX2 is a member of thehomeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents aDNA-binding domain. Homeobox proteins have been characterized extensively as transcriptional regulators involved inpattern formation in both invertebrate and vertebrate species.[5]
Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype ofTurner syndrome patients. This gene is considered to be a candidate gene forCornelia de Lange syndrome.[5]
SHOX2 localises on chromosome 3, so it is an autosomal and not a pseudoautosomal homeobox (SHOX, which localises on the PAR1 region of chromosome X and Y, has a pseudoautosomal hereditability).
De Baere E, Speleman F, Van Roy N, et al. (1998). "Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25→q26.1 by in situ hybridization".Cytogenet. Cell Genet.82 (3–4):228–9.doi:10.1159/000015108.PMID9858825.S2CID19905636.
