Hamartin

Hamartin is a protein that in humans is encoded by the TSC1 gene. It is named after the disease tuberous sclerosis, for which it is a causative gene. Hamartin, along with tuberin, another protein, forms a complex that inhibits the mTOR pathway, which is involved in cell growth and proliferation.

Function

Hamartin is a cytoplasmic protein that interacts with tuberin to form a complex. This complex negatively regulates the mTOR pathway, which controls cell size and proliferation. Mutations in the TSC1 gene can lead to a loss of this regulation, resulting in the formation of benign tumors in multiple organs.

Clinical significance

Mutations in the TSC1 gene, which encodes hamartin, can cause tuberous sclerosis. This is a genetic disorder characterized by the growth of numerous benign tumors in the brain, kidneys, heart, eyes, lungs, and skin. Symptoms can include seizures, intellectual disability, developmental delay, skin abnormalities, and lung and kidney disease.

Research

Research into hamartin and its role in the mTOR pathway has potential implications for the treatment of diseases such as cancer, where cell growth and proliferation are often uncontrolled. Inhibitors of the mTOR pathway are currently being investigated as potential cancer treatments.

See also

• TSC2
• Tuberous sclerosis
• mTOR