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Genes in the TBX gene family provide instructions for making proteins called T-box proteins that play critical roles during embryonic development. These proteins are especially important for normal development of the arms, hands, and heart. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors. Genes in the T-box family are grouped together because the proteins produced from these genes share a similar segment called a T box. The T box is the part of the protein that binds to DNA. T-box proteins often interact with one another or with other transcription factors that regulate gene activity.
Researchers have identified at least 17 genes in the T-box gene family. Mutations in these genes lead to disorders that involve the abnormal development of tissues in which a particular T-box gene is active (expressed). Many genetic disorders caused by T-box gene mutations are characterized by heart problems and/or skeletal abnormalities of the hands and arms.
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the TBX family (http://www.genenames.org/genefamily/tbx.php).
Genetics Home Reference summarizes the normal function and health implications of these members of the TBX gene family: T, TBX1, and TBX5.
Genetics Home Reference includes these conditions related to genes in the TBX gene family:
You may find the following resources about the TBX gene family helpful.
DNA ; embryonic ; expressed ; gene ; protein ; transcription
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the TBX gene family.
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.