TSC2
TSC2 is a gene that provides instructions for making a protein called tuberin. This protein is part of a complex that regulates cell growth and size. Mutations in the TSC2 gene can lead to a variety of medical conditions, including Tuberous sclerosis and Lymphangioleiomyomatosis.
Function[edit | edit source]
The TSC2 gene provides instructions for making the protein tuberin. Tuberin forms a complex with another protein, hamartin, which is produced from the TSC1 gene. This complex acts as a tumor suppressor, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way.
Clinical significance[edit | edit source]
Mutations in the TSC2 gene can lead to a variety of medical conditions. The most common of these is tuberous sclerosis, a condition that can cause skin abnormalities, seizures, and intellectual disability. Mutations in the TSC2 gene can also cause lymphangioleiomyomatosis, a rare lung disease that primarily affects women.
Genetics[edit | edit source]
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 2,082,597 to base pair 2,208,375 on chromosome 16.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- TSC2 at Genetics Home Reference
- TSC2 at NCBI
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Contributors: Prab R. Tumpati, MD