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TTR

This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin andorosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinalfluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identicalsubunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloiddeposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutationsis non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroidhyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis,meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. (provided by RefSeq, Jan 2009)

This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin andorosomucoid

Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinalfluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identicalsubunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloiddeposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutationsis non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroidhyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis,meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. (provided by RefSeq, Jan 2009)

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  • Complement and coagulation cascades
    Homo sapiens (human) one gene
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