SHOX : SHOX homeobox
Description
The SHOX (SHOX homeobox) is a protein-coding gene located on chromosome X|Y.
The SHOX gene provides instructions for creating a transcription factor protein that controls the activity of other genes. This gene belongs to the homeobox gene family, which plays a vital role in early embryonic development and controls the formation of various body structures. SHOX is particularly essential for skeletal development, especially the growth and maturation of bones in the arms and legs. Each person inherits one copy of the SHOX gene from each parent, located on the pseudoautosomal region of the sex chromosomes (X and Y). This region contains genes present on both chromosomes, ensuring both males and females have two functional copies of the SHOX gene in every cell.
SHOX is also known as GCFX, PHOG, SHOX1, SHOXY, SS.
Associated Diseases
- Langer mesomelic dysplasia
- Short stature, idiopathic familial
- Leri-Weill dyschondrosteosis
- SHOX-related short stature
- Léri-Weill dyschondrosteosis
- Turner syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome
