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Reviewed June 2010
What is the official name of the TSC2 gene?
The official name of this gene is “tuberous sclerosis 2.”
TSC2 is the gene's official symbol. The TSC2 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 TSC2 gene?
The TSC2 gene provides instructions for producing a protein called tuberin, whose function is not fully understood. Within cells, tuberin interacts with a protein called hamartin, which is produced from the TSC1 gene. These two proteins help control cell growth and size. Proteins that normally prevent cells from growing and dividing too fast or in an uncontrolled way are known as tumor suppressors. Hamartin and tuberin carry out their tumor suppressor function by interacting with and regulating a wide variety of other proteins.
How are changes in the TSC2 gene related to health conditions?
Where is the TSC2 gene located?
Cytogenetic Location: 16p13.3
Molecular Location on chromosome 16: base pairs 2,047,801 to 2,088,711
The TSC2 gene is located on the short (p) arm of chromosome 16 at position 13.3.
More precisely, the TSC2 gene is located from base pair 2,047,801 to base pair 2,088,711 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TSC2?
You and your healthcare professional may find the following resources about TSC2 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 TSC2 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 TSC2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.