TTR

Description

The TTR gene, located on chromosome 18, encodes for transthyretin, a protein primarily responsible for transporting thyroxine (T4) and retinol (vitamin A) in the blood. Transthyretin is a homotetrameric protein, meaning it is composed of four identical subunits. Each subunit contains a beta-sheet structure with two binding sites for T4 and retinol. While primarily known for its transport functions, mutations in the TTR gene can lead to a range of debilitating diseases, particularly affecting the nervous system and heart.

Associated Diseases

• Familial amyloid polyneuropathy (FAP): A progressive, debilitating neurological disorder characterized by nerve damage and dysfunction.
• Senile systemic amyloidosis (SSA): A form of amyloidosis primarily affecting the heart and other organs.
• Transthyretin amyloid cardiomyopathy (ATTR-CM): A heart disease characterized by amyloid protein deposits in the heart muscle.
• Familial amyloid polyneuropathy with cardiac involvement (FAP-CM): A combination of FAP and ATTR-CM.

Did you know?

Transthyretin is one of the few proteins that can be produced by both the liver and choroid plexus, the tissue lining the ventricles of the brain.