Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Transthyretin

The protein encoded by the TTR gene is transthyretin, a carrier protein. It transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in plasma. The mature protein is a tetramer of identical subunits (homotetramer). Mutations may cause various diseases characterized by amyloid deposition. Inheritance is autosomal dominant but exhibits a great deal of variability.

Protein Structure

4 identical subunits of the translated protein form a homotetramer, which is secreted into the blood stream and cerebrospinal fluid.

Expression

The protein is mainly synthesized in in liver, choroid plexus, retinal pigment epithelium, and pancreas and secreted into plasma and cerebrospinal fluid.

Phenotype

Many amyloidotic phenotypes can be distinguished: familial amyloid polyneuropathy (FAP), amyloid cardiomyopathy (FAC), senile systemic amyloidosis (SSA), amyloidotic vitreous opacities, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, and carpal tunnel syndrome. As this protein is involved in thyroid hormone transport a thyroid-related phenotype also exists: euthyroid hyperthyroxinaemia.

Pathology

Mutations cause protein misfolding. Those misfolded proteins aggregate in extracellular space. Those amyloid deposits that impair organ function.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

ATTR amyloidosis
TTR

References:

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117.

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144.

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145.

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146.

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147.

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149.

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150.

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151.

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152.

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153.

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154.

Dwulet FE et al. (1986) Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

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155.

Saraiva MJ et al. (1986) Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy.

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156.

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157.

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160.

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Sakoda S et al. (1983) Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey.

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Dwulet FE et al. (1984) Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.

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Tawara S et al. (1983) Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).

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Steen L et al. (1983) Familial amyloidosis with polyneuropathy. A long-term follow-up of 21 patients with special reference to gastrointestinal symptoms.

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190.

Benson MD et al. (1983) Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis.

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191.

Moses AC et al. (1982) Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.

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192.

Dwulet FE et al. (1983) Polymorphism of human plasma thyroxine binding prealbumin.

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193.

Shirahama T et al. (1982) Senile cerebral amyloid. Prealbumin as a common constituent in the neuritic plaque, in the neurofibrillary tangle, and in the microangiopathic lesion.

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194.

Skinner M et al. (1981) The prealbumin nature of the amyloid protein in familial amyloid polyneuropathy (FAP)-swedish variety.

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195.

Kito S et al. (1980) Studies on familial amyloid polyneuropathy in Ogawa Village, Japan.

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196.

None (1995) Transthyretin mutations in health and disease.

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197.

Jacobson DR et al. (1995) Transthyretin Ser 6 gene frequency in individuals without amyloidosis.

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198.

Yamamoto K et al. (1994) Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).

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199.

Uemichi T et al. (1994) Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).

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200.

Ferlini A et al. (1994) A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.

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201.

Hesse A et al. (1993) Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.

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202.

Benson MD et al. (1993) A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.

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203.

Benson MD et al. (1993) A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.

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204.

Alves IL et al. (1993) Thyroxine binding in a TTR Met 119 kindred.

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205.

Yasuda T et al. (1994) Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).

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206.

McCutchen SL et al. (1993) Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity.

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207.

Almeida Mdo R et al. (1993) Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.

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208.

Murakami T et al. (1994) Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.

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209.

Shiomi K et al. (1993) A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.

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210.

Episkopou V et al. (1993) Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone.

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211.

Ii S et al. (1993) The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect.

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212.

Nordvåg BY et al. (1993) Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.

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213.

Tashima K et al. (1995) Change in the age of onset in patients with familial amyloidotic polyneuropathy type I.

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214.

Reilly MM et al. (1995) Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77).

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215.

Jenne DE et al. (1996) A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

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216.

Jacobson DR et al. (1996) Revised transthyretin Ile 122 allele frequency in African-Americans.

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217.

Ferlini A et al. (1996) Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.

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218.

Refetoff S et al. (1996) A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.

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219.

Jacobson DR et al. (1997) Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.

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220.

None (1997) Aging, amyloid, and cardiomyopathy.

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221.

Uemichi T et al. (1997) A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy.

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222.

Ando E et al. (1997) Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up.

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223.

Yamamoto K et al. (1998) A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.

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224.

Blanco-Jerez CR et al. (1998) Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.

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225.

Myers TJ et al. (1998) Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites.

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226.

Klein CJ et al. (1998) Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.

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227.

Utsugisawa K et al. (1998) Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family.

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228.

Orphanet article

Orphanet ID 120337 external link
229.

NCBI article

NCBI 7276 external link
230.

OMIM.ORG article

Omim 176300 external link
231.

Wikipedia article

Wikipedia EN (Transthyretin) external link
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