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

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.


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