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Reviewed September 2007
What is the official name of the TBX1 gene?
The official name of this gene is “T-box 1.”
TBX1 is the gene's official symbol. The TBX1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the TBX1 gene?
The TBX1 gene provides instructions for making a protein called T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins produced from these genes bind to specific areas of DNA. The proteins attach to critical regions near genes and help control the activity of those genes. T-box proteins are called transcription factors on the basis of this action.
The T-box 1 protein appears to be necessary for the normal development of muscles and bones of the face and neck, large arteries that carry blood out of the heart, structures in the ear, and glands such as the thymus and parathyroid. Although the T-box 1 protein acts as a transcription factor, researchers have not determined which genes are regulated by this protein.
Does the TBX1 gene share characteristics with other genes?
The TBX1 gene belongs to a family of genes called TBX (T-boxes).
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? in the Handbook.
How are changes in the TBX1 gene related to health conditions?
Where is the TBX1 gene located?
Cytogenetic Location: 22q11.21
Molecular Location on chromosome 22: base pairs 19,756,703 to 19,783,593
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The TBX1 gene is located on the long (q) arm of chromosome 22 at position 11.21.
More precisely, the TBX1 gene is located from base pair 19,756,703 to base pair 19,783,593 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TBX1?
You and your healthcare professional may find the following resources about TBX1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the TBX1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding TBX1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
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? in the Handbook.