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Selective expression in pancreatic islets, renal tubules and liver. Positivity also observed in plasma.
DATA RELIABILITY
Data reliability description
Antibody staining mainly consistent with RNA expression data. Secreted protein, tissue location of RNA and protein might differ and correlation is complex.
RNA tissue category: Group enriched (retina, liver)
GENE INFORMATION
Gene name
TTR (HGNC Symbol)
Synonyms
CTS, CTS1, HsT2651, PALB
Description
Transthyretin (HGNC Symbol)
Entrez gene summary
This gene encodes 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. [provided by RefSeq, Jan 2009]
