SHOX polyclonal antibody

Homeodomain proteins (HP) are transcriptional regulators that coordinate the expression of genes involved in development, differentiation and cellular transformation. HPs are characterized by a conserved domain of 60 amino acid residues that recognize and bind a site in the regulatory region of the target gene. SHOX, a member of the bicoid subfamily of the paired homeobox family, controls fundamental aspects of growth and development and undergoes splicing resulting in two isoforms, SHOXA and SHOXB. SHOXA is expressed in skeletal muscle, placental, pancreas, heart and bone marrow fibroblast and, to a lesser extent, in kidney and lung. SHOXB is highly expressed in osteogenic cells, but not expressed in brain, kidney, liver or lung. Defects in the gene SHOXX cause Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).