SHOX Polyclonal Antibody

disease:Defects in SHOX are a cause of idiopathic short stature [MIM:300582]. Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations of national height standards in the absence of specific causative disorders.,disease:Defects in SHOX are a cause of Langer mesomelic dysplasia (LMD) [MIM:249700]. LMD is an autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date.,disease:Defects in SHOX are the cause of Leri-Weill dyschondrosteosis (LWD) [MIM:127300]. LWD is a dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.,function:Controls fundamental aspects of growth and development.,induction:By retinoic acid and phorbol-12-myristate 13-acetate 13-acetate (PMA).,miscellaneous:The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.,similarity:Belongs to the paired homeobox family. Bicoid subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,similarity:Contains 1 OAR domain.,tissue specificity:SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver and lung. Highly expressed in osteogenic cells.,