Transthyretin
Transthyretin
Transthyretin (pronounced: trans-thy-re-tin) is a protein that in humans is encoded by the TTR gene. It is a transport protein in the serum and cerebrospinal fluid that carries the thyroid hormone thyroxine (T4) and retinol-binding protein bound to retinol.
Etymology
The name "transthyretin" indicates its function, 'transports thyroxine and retinol'. It was formerly known as prealbumin because it ran faster than albumins on gels during electrophoresis.
Function
Transthyretin is a tetramer in serum and cerebrospinal fluid, and it carries the thyroid hormone thyroxine (T4) and retinol-binding protein bound to retinol. This is how the body transports vitamin A and the hormone thyroxine to the tissues that need them.
Clinical significance
Mutations in the transthyretin gene are linked to the most common type of hereditary systemic amyloidosis, known as transthyretin-related hereditary amyloidosis (ATTR). This is a condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues.
Related terms
External links
- Medical encyclopedia article on Transthyretin
- Wikipedia's article - Transthyretin
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