SHOX
Function
Controls fundamental aspects of growth and development.
Involvement in disease
Leri-Weill dyschondrosteosis
LWD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Langer mesomelic dysplasia
LMD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Short stature, idiopathic, X-linked
ISS
A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the paired homeobox family. Bicoid subfamily.
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.
Cellular localization
- Nucleus
Alternative names
PHOG, SHOX, Short stature homeobox protein, Pseudoautosomal homeobox-containing osteogenic protein, Short stature homeobox-containing protein