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Target not currently curated in GtoImmuPdb

Target id: 2851

Nomenclature: transthyretin

Abbreviated Name: TTR

Family: Transthyretin

Gene and Protein Information Click here for help
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 Click here for help
carpal tunnel syndrome 1 [3] | CTS1 | PALB | prealbumin, amyloidosis type I
Database Links Click here for help
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
RefSeq Nucleotide
RefSeq Protein
Selected 3D Structures Click here for help
Image of receptor 3D structure from RCSB PDB
Description:  Structure of wild-type TTR in complex with tafamidis.
Ligand:  tafamidis
Resolution:  1.3Å
Species:  Human
References:  2
Image of receptor 3D structure from RCSB PDB
Description:  The Structure of V122I Mutant Transthyretin in Complex with Tafamidis
Ligand:  tafamidis
Resolution:  1.2Å
Species:  Human
References:  4

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Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
tafamidis Small molecule or natural product Approved drug Ligand has a PDB structure Hs Inhibition 8.7 pKd 2
pKd 8.7 (Kd 2x10-9 M) [2]
Immuno Process Associations
Immuno Process:  Inflammation
Immuno Process:  Cellular signalling
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Familial amyloid cardiomyopathy
Description: Familial amyloid cardiomyopathy (FAP) is a degenerative disease caused by the formation of transthyretin (TTR) amyloidogenic fibrils in the heart.
Synonyms: Transthyretin amyloid cardiopathy
Transthyretin amyloidosis [Disease Ontology: DOID:0050638]
Transthyretin-related familial amyloid cardiomyopathy [Orphanet: ORPHA85451]
TTR-related cardiac amyloidosis
Disease Ontology: DOID:0050638
OMIM: 105210
Orphanet: ORPHA85451
References:  2
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human V30M 148G>A 1
Missense Human V122I 4
Gene Expression and Pathophysiology Comments
Excess production and accumulation of transthyretin (TTR) causes hereditary transthyretin-mediated amyloidosis. Drugs that directly inhibit TTR expression (of both wild type and mutant TTR) in the liver, are now approved for use in clinical practice.
General Comments
Three drugs that disrupt TTR expression have been approved for clinical use, as a mechanism to treat hereditary transthyretin-mediated amyloidosis: inotersen (Tegsedi®) is an antisense oligonucleotide, and patisiran (Onpattro®) and vutrisiran (Amvuttra®) are double-stranded small interfering RNAs. As an alternative gene-level intervention, Intellia Therapeutics have conducted a first-in-human trial of their in vivo CRISPR/Cas9 TTR genome editing candidate, NTLA-2001 (NCT04601051) [5]. NTLA-2001 reduced serum levels of transthyretin.


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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 USA, 109 (24): 9629-34. [PMID:22645360]

3. 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]

4. 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 USA, 110 (24): 9992-7. [PMID:23716704]

5. Yadav JD, Othee H, Chan KA, Man DC, Belliveau PP, Towle J. (2021) Transthyretin Amyloid Cardiomyopathy-Current and Future Therapies. Ann Pharmacother, 55 (12): 1502-1514. [PMID:33685242]

How to cite this page

Transthyretin: transthyretin. Last modified on 18/01/2023. Accessed on 25/05/2024. IUPHAR/BPS Guide to PHARMACOLOGY,