Shox gene
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SHOX gene MedlinePlus Genetics short stature homeobox
SHOX stands for short stature homeobox. It is a developmental regulatory gene that encodes a transcription factor required especially for growth and maturation of bones in the arms and legs.
- Location: pseudoautosomal region 1 (PAR1) of both Xp22.33 and Yp11.3, so it escapes X-inactivation. Most people have two functional copies.
- Role: skeletal growth, particularly the forearms and lower legs.
- One altered/deleted copy: may cause isolated short stature or Léri-Weill dyschondrosteosis, often with mesomelia and Madelung deformity of the wrist.
- Two nonfunctional copies: causes severe Langer mesomelic dysplasia.
- Turner syndrome: loss of one SHOX copy contributes to the typical short stature. SHOX deletions are found in roughly 2% to 5% of otherwise unexplained short stature cases. Robbins & Kumar Basic Pathology, Turner Syndrome section.
- Inheritance: pseudoautosomal dominant for SHOX deficiency, meaning transmission can occur through either the X or Y chromosome, from either parent.
The MedlinePlus SHOX overview explains its developmental function and associated conditions.
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