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Reviewed January 2012
What is the official name of the SHOX gene?
The official name of this gene is “short stature homeobox.”
SHOX is the gene's official symbol. The SHOX gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SHOX gene?
The SHOX gene provides instructions for making a protein that regulates the activity of other genes. On the basis of this role, the SHOX protein is called a transcription factor. The SHOX gene is part of a large family of homeobox genes, which act during early embryonic development to control the formation of many body structures. Specifically, the SHOX gene is essential for the development of the skeleton. It plays a particularly important role in the growth and maturation of bones in the arms and legs.
One copy of the SHOX gene is located on each of the sex chromosomes (the X and Y chromosomes) in an area called the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) have two functional copies of the SHOX gene in each cell.
Does the SHOX gene share characteristics with other genes?
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the SHOX gene related to health conditions?
Where is the SHOX gene located?
Cytogenetic Location: Xp22.33;Yp11.3
Molecular Location on the X chromosome and the Y chromosome: base pairs 624,344 to 659,411
(Homo sapiens Annotation Release 107, GRCh38.p2) (
More precisely, the SHOX gene is located from base pair 624,344 to base pair 659,411 on the X chromosome and the Y chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SHOX?
You and your healthcare professional may find the following resources about SHOX helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the SHOX gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SHOX?
cell ; chondrocyte ; chromosome ; deletion ; dysplasia ; embryonic ; gene ; homeobox ; idiopathic ; protein ; pseudoautosomal region ; sex chromosomes ; short stature ; stature ; syndrome ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.