Short stature homeobox gene

The short stature homeobox (SHOX) gene is a is_associated_with::gene, located on both the X and is_associated_with::Y chromosomes, which is associated with is_associated_with::short stature in humans if mutated or present in only one copy (is_associated_with::haploinsufficiency).

Pathology
The gene was first found during a search for the cause of short stature in women with is_associated_with::Turner syndrome, in which there is loss of genetic material from the X chromosome, classically by loss of one entire X chromosome.

Since its discovery, the SHOX gene has been found to play a role in idiopathic short stature (short stature of unknown cause without other symptoms), is_associated_with::Léri-Weill dyschondrosteosis, and is_associated_with::Langer mesomelic dysplasia.

is_associated_with::Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome is_associated_with::aneuploidy conditions such as is_associated_with::47,XXX, is_associated_with::47,XYY, is_associated_with::47,XXY, 48,XXYY, etc.

Function
The SHOX gene is a is_associated_with::homeobox gene, meaning that it helps regulate development. The SHOX gene is composed of 6 different is_associated_with::exons and is located in the is_associated_with::pseudoautosomal region (PAR1) of the X chromosome and Y chromosome. Experiments have found similar genes in a variety of animals and insects.