The TSC1 gene provides instructions for producing a protein called hamartin. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and division (proliferation) and cell 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.
Other Names
hamartin; KIAA0243; TSC1_HUMAN; tuberous sclerosis 1
Related Genetics Topics
- Tuberous sclerosis complex — MedlinePlus Genetics
- Lymphangioleiomyomatosis — MedlinePlus Genetics
- Cholangiocarcinoma — MedlinePlus Genetics
Identifiers
- NCBI Gene: 7248
- OMIM: 605284
- OMIM: 607341
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
