The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
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| Aliases | SHOX, GCFX, PHOG, SHOXY, SS, short stature homeobox | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 312865, 400020; HomoloGene: 55463; GeneCards: SHOX; OMA:SHOX - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Pathology
SHOX was first found during a search for the cause of short stature in women with Turner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome.[2]
Since its discovery, the gene has been found to play a role in idiopathic short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as triple X, XYY, Klinefelter, XXYY and similar syndromes.[3]
Genetics and function
SHOX is composed of 6 different exons and is located in the pseudoautosomal region 1 (PAR1) of the X chromosome (Xp22.33) and Y chromosome.[2] Since genes in PAR escape X inactivation, their dosage changes with sex chromosome aneuploidies such as Turner.[4]
Similar genes are present in a variety of animals and insects.
It is a homeobox gene, meaning that it helps to regulate development.
References
Further reading
External links
- short+stature+homeobox+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- GeneReview/NCBI/NIH/UW entry on SHOX-Related Haploinsufficiency Disorders