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TTR / Transthyretin is transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. 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, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc.
Gene Name: | transthyretin |
Synonyms: | TTR, ATTR, CTS1, CTS, HsT2651, PALB, Prealbumin, TBPA, Transthyretin, Carpal tunnel syndrome 1, Prealbumin, amyloidosis type I, Thyroxine-binding prealbumin |
Target Sequences: | NM_000371 NP_000362.1 P02766 |
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