SHOX2 Products

SHOX2 is a member of the homeo box family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeo box genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeo box genes. SHOX is a pseudoautosomal homeo box gene that is thought to be responsible for idiopathic short stature and implicated to play a role in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified.