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The official name of this gene is “T-box 5.”
TBX5 is the gene's official symbol. The TBX5 gene is also known by other names, listed below.
The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the T-box 5 protein is called a transcription factor.
During embryonic development, the T-box 5 protein turns on (activates) genes involved in the normal development of the hands and arms (upper limbs). The T-box 5 protein also activates genes that play an important role in the growth and development of the heart. This protein appears to be particularly important for the formation of the wall (septum) that separates the right and left sides of the heart. The T-box 5 protein is also critical to the formation of the electrical system that coordinates contractions of the heart chambers.
The TBX5 gene belongs to a family of genes called TBX (T-box gene family).
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 70 mutations in the TBX5 gene have been found to cause Holt-Oram syndrome. Most of these mutations prevent the production of the T-box 5 protein. Other mutations change one of the protein building blocks (amino acids) used to make the T-box 5 protein. Researchers believe that a change in amino acids impairs the protein's ability to bind to DNA. As a result of TBX5 mutations, genes that are important for development of the heart and upper limbs are probably not activated. Abnormal development of the heart and upper limbs is characteristic of Holt-Oram syndrome.
Cytogenetic Location: 12q24.1
Molecular Location on chromosome 12: base pairs 114,791,734 to 114,846,246
The TBX5 gene is located on the long (q) arm of chromosome 12 at position 24.1.
More precisely, the TBX5 gene is located from base pair 114,791,734 to base pair 114,846,246 on chromosome 12.
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 TBX5 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.
acids ; DNA ; embryonic ; gene ; protein ; septum ; syndrome ; 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.