|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “SRY (sex determining region Y)-box 9.”
SOX9 is the gene's official symbol. The SOX9 gene is also known by other names, listed below.
The SOX9 gene provides instructions for making a protein that plays a critical role during embryonic development. The SOX9 protein is especially important for the development of the skeleton and reproductive system. This protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the SOX9 protein is called a transcription factor.
The SOX9 gene belongs to a family of genes called SOX (SRY (sex determining region Y)-box 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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
More than 45 mutations involving the SOX9 gene have been found to cause campomelic dysplasia, a disorder that is often life-threatening in the newborn period. Most cases of campomelic dysplasia are caused by mutations within the SOX9 gene. These mutations prevent the production of the SOX9 protein or result in a protein with impaired ability to function as a transcription factor. About 5 percent of cases are caused by chromosome abnormalities that occur around the SOX9 gene. These chromosome abnormalities disrupt regions of DNA that normally regulate the activity of the SOX9 gene. All of these genetic changes prevent the SOX9 protein from properly controlling the genes essential for normal development of the skeleton, reproductive system, and other parts of the body. Abnormal development of these structures causes the signs and symptoms of campomelic dysplasia.
Individuals with milder forms of campomelic dysplasia are more likely to have chromosome abnormalities around the SOX9 gene than mutations within the gene.
Chromosome abnormalities that occur around the SOX9 gene may also cause some cases of Pierre-Robin sequence. Individuals with this condition have an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). These cases of Pierre-Robin sequence are described as isolated or nonsyndromic because they occur without other signs and symptoms. Research suggests that some chromosome abnormalities near the SOX9 gene disrupt the regulation of this gene only in certain parts of the body. These particular chromosome abnormalities likely prevent the SOX9 protein from properly controlling the development of facial structures, which leads to isolated Pierre-Robin sequence.
Cytogenetic Location: 17q23
Molecular Location on chromosome 17: base pairs 70,117,160 to 70,122,560
The SOX9 gene is located on the long (q) arm of chromosome 17 at position 23.
More precisely, the SOX9 gene is located from base pair 70,117,160 to base pair 70,122,560 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SOX9 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
chromosome ; cleft palate ; DNA ; dysplasia ; embryonic ; gene ; micrognathia ; palate ; protein ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.