Short stature homeobox protein (SHOX)

The short stature homeobox protein (SHOX) is a transcription factor encoded by the SHOX gene, located in the pseudoautosomal region of both the X and Y chromosomes. SHOX helps control the expression of other genes, particularly during early embryonic development, where it is essential for normal skeletal formation and the growth/maturation of bones, especially in the arms and legs. It maintains bone progenitor cell populations and regulates the timing of osteogenic differentiation. Mutations, deletions, or dosage changes in SHOX lead to several congenital disorders, notably Turner syndrome, Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and idiopathic short stature. SHOX is a member of the homeobox gene family and acts as a transcriptional activator or repressor depending on the cellular context. No clinically approved drugs directly target SHOX, and its primary relevance is as a diagnostic biomarker for skeletal dysplasia syndromes. Its therapeutic targeting, safety issues, and mechanism of action for drugs are currently not applicable given its role.

Other names

Short-stature homeobox geneSHOX homeoboxGCFXPHOGSHOX1SHOXYSSShort stature homeobox proteinGrowth control factor, X-linkedPseudoautosomal homeobox-containing osteogenic proteinShort stature homeoboxSHOX

Not applicable; no known drugs directly target SHOX.