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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 TBX 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 an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
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 ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference 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.