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.
Other Names
GCFX; growth control factor, X-linked; PHOG; pseudoautosomal homeobox-containing osteogenic gene; SHOX_HUMAN; SS
Related Genetics Topics
- Turner syndrome — MedlinePlus Genetics
- Léri-Weill dyschondrosteosis — MedlinePlus Genetics
- Langer mesomelic dysplasia — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6473
- OMIM: 300582
- OMIM: 312865
- OMIM: 400020
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
