Medical Knowledge Cockpit carpal tunnel syndrome, familial

TTR

• Benzoxazoles as transthyretin amyloid fibril inhibitors: synthesis, evaluation, and mechanism of action
• Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP)
• Trans-suppression of misfolding in an amyloid disease

 

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)