The tuberous sclerosis 1 gene. The product of the TSC1 gene is a protein called hamartin. This protein interacts with tuberin, the product of the TSC2 gene. These two proteins form a complex and play a role in cell growth and division. TSC1 functions as a tumor suppressor gene.
Mutation in the TSC1 gene causes tuberous sclerosis. The mutant TSC1 gene produces an abnormal version of hamartin. This abnormal protein cannot form a complex with tuberin, the product of the TSC2 gene. Loss of this protein complex causes cells to divide too often, resulting in cell overgrowth and benign tumors. The TSC1 gene is located on the long (q) arm of chromosome 9 in band 9q34.
The tuberous sclerosis 2 gene. The product of the TSC2 gene is a protein called tuberin. This protein interacts with hamartin, the product of the TSC1 gene. These two proteins form a complex and play a role in cell growth and division. The complex of these two proteins also controls how materials are transported within […]
Abbreviation for Transmissible spongiform encephalopathy.
Thyroid stimulating hormone.
- TSH receptor
The receptor for thyroid stimulating hormone (TSH), which is also called thyrotropin. Encoded by a gene on chromosome 14q, TSHR is largest of all known glycoprotein hormone receptors. It is one of the primary antigens in autoimmune thyroid disease. Autoantibodies to TSHR act as TSH agonists in Graves’ disease and as TSH antagonists in Hashimoto […]
Thyroid stimulating immunoglobulin.