TSC1
TSC1
TSC1 (pronounced tee-ess-see-one), also known as Hamartin, is a gene that encodes the protein hamartin. The TSC1 gene is located on chromosome 9q34.
Etymology
The term "TSC1" is an abbreviation for "Tuberous Sclerosis Complex 1". The name "Hamartin" is derived from the Greek word "hamartia", meaning "error" or "fault", reflecting the gene's role in disease when mutated.
Function
The protein encoded by the TSC1 gene interacts with TSC2 (tuberin) to form a complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR), which is a critical regulator of cell growth and proliferation.
Clinical Significance
Mutations in the TSC1 gene are associated with Tuberous Sclerosis Complex, a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These mutations can also cause other health problems, including skin abnormalities, seizures, cognitive impairment, and behavioral problems.
Related Terms
- TSC2: The gene that encodes the protein tuberin, which interacts with hamartin, the protein encoded by TSC1.
- Tuberous Sclerosis Complex: A genetic disorder caused by mutations in the TSC1 or TSC2 genes.
- mTOR: A protein that regulates cell growth and proliferation, and is inhibited by the TSC1-TSC2 complex.
External links
- Medical encyclopedia article on TSC1
- Wikipedia's article - TSC1
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski