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Gene and Protein Information ![]() |
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Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | - | 147 | 18q12.1 | TTR | transthyretin | |
Mouse | - | 147 | 18 11.47 cM | Ttr | transthyretin | |
Rat | - | 147 | 18p12 | Ttr | transthyretin |
Previous and Unofficial Names ![]() |
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carpal tunnel syndrome 1 [5] | CTS1 | PALB | prealbumin, amyloidosis type I |
Database Links ![]() |
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CATH/Gene3D | 2.60.40.180 |
ChEMBL Target | CHEMBL3194 (Hs), CHEMBL2151 (Rn) |
Ensembl Gene | ENSG00000118271 (Hs), ENSMUSG00000061808 (Mm), ENSRNOG00000016275 (Rn) |
Entrez Gene | 7276 (Hs), 22139 (Mm), 24856 (Rn) |
Human Protein Atlas | ENSG00000118271 (Hs) |
KEGG Gene | hsa:7276 (Hs), mmu:22139 (Mm), rno:24856 (Rn) |
OMIM | 176300 (Hs) |
Pharos | P02766 (Hs) |
RefSeq Nucleotide | NM_000371 (Hs), NM_013697 (Mm), NM_012681 (Rn) |
RefSeq Protein | NP_000362 (Hs), NP_038725 (Mm), NP_036813 (Rn) |
SynPHARM | 82072 (in complex with tafamidis) |
UniProtKB | P02766 (Hs), P07309 (Mm), P02767 (Rn) |
Wikipedia | TTR (Hs) |
Selected 3D Structures ![]() |
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Other Binding Ligands | |||||||||||||||||||||||||||||||||||||||||||||||||
Key to terms and symbols | Click column headers to sort | ||||||||||||||||||||||||||||||||||||||||||||||||
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Immuno Process Associations | |||||||||
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Clinically-Relevant Mutations and Pathophysiology ![]() |
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Gene Expression and Pathophysiology Comments | |
Excess production and accumulation of transthyretin (TTR) causes hereditary transthyretin-mediated amyloidosis. Two novel drugs are now approved to combat this disease: inotersen (Tegsedi®) [4] and patisiran (Onpattro®) [3]. Both of these drugs act to reduce the amount of TTR protein (both wild type and mutant) produced in the liver, but by slightly different mechanisms. Inotersen is an antisense oligonucleotide inhibitor of TTR synthesis, whereas patisiran is a double-stranded small interfering RNA (which targets a conserved sequence in the 3' UTR of mutant and wild-type TTR mRNA). Inotersen is administered subcutaneously, and patisiran is delivered by intravenous infusion in a lipid nanoparticle formulation. |
1. Benson MD. (1991) Inherited amyloidosis. J. Med. Genet., 28 (2): 73-8. [PMID:1848299]
2. Bulawa CE, Connelly S, Devit M, Wang L, Weigel C, Fleming JA, Packman J, Powers ET, Wiseman RL, Foss TR et al.. (2012) Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc. Natl. Acad. Sci. U.S.A., 109 (24): 9629-34. [PMID:22645360]
3. Hoy SM. (2018) Patisiran: First Global Approval. Drugs, 78 (15): 1625-1631. [PMID:30251172]
4. Keam SJ. (2018) Inotersen: First Global Approval. Drugs, 78 (13): 1371-1376. [PMID:30120737]
5. Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M. (1994) Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology, 44 (2): 315-8. [PMID:8309582]
6. Penchala SC, Connelly S, Wang Y, Park MS, Zhao L, Baranczak A, Rappley I, Vogel H, Liedtke M, Witteles RM et al.. (2013) AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. Proc. Natl. Acad. Sci. U.S.A., 110 (24): 9992-7. [PMID:23716704]
Carrier proteins: transthyretin. Last modified on 09/07/2019. Accessed on 24/02/2021. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2851.