SHOX2

Short stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a is_associated_with::protein that in humans is encoded by the SHOX2 is_associated_with::gene.

Function
SHOX2 is a member of the is_associated_with::homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a is_associated_with::DNA-binding domain. Homeobox proteins have been characterized extensively as transcriptional regulators involved in is_associated_with::pattern formation in both invertebrate and vertebrate species.

Clinical significance
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 of is_associated_with::Turner syndrome patients. This gene is considered to be a candidate gene for is_associated_with::Cornelia de Lange Syndrome.

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).