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Transthyretin is a tetrameric carrier protein that transports thyroid hormones in the plasma and cerebrospinal fluid, and retinol (vitamin A) in the plasma. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart. The diseases caused by mutations include familial amyloidotic polyneuropathy, euthyroid hyperthyroxinemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, and carpal tunnel syndrome. It has also been suggested that Transthyretin plays an important role in the maintenance of normal cognitive processes during aging, neuropeptide processing and nerve regeneration. It has also been linked to several pathological conditions including Parkinson"e;s disease, schizophrenia, and depression.
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