transthyretin

Normal function

The TTR gene provides instructions for making a protein called transthyretin. This protein transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport thyroxine, four transthyretin proteins must attach (bind) to each other to form a four-protein unit (tetramer). To transport retinol, transthyretin must form a tetramer and bind to another protein called retinol-binding protein. Transthyretin is produced primarily in the liver, and a small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina).

Conditions referring to this gene or chromosome

• Transthyretin amyloidosis

• תסמונת התעלה הקרפלית

Other names

ATTR

PALB

prealbumin, amyloidosis type I

TBPA

TTHY_HUMAN