SHOX2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Short-stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the SHOX2 gene.[5][6][7]
Function
SHOX2 is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA-binding domain. Homeobox proteins have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species.[5]
Clinical significance
Several human genetic disorders are caused by aberrations in human homeobox genes.
This gene is a paralog of SHOX, a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature. SHOX is also implicated in the short stature phenotype associated with Turner syndrome.
This gene is considered to be a candidate gene for Cornelia 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).