transthyretin | Carrier proteins | IUPHAR/BPS Guide to PHARMACOLOGY

Top ▲


Target not currently curated in GtoImmuPdb

Target id: 2851

Nomenclature: transthyretin

Abbreviated Name: TTR

Family: Carrier proteins

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 147 18q12.1 TTR transthyretin
Mouse - 147 18 A2 Ttr transthyretin
Rat - 147 18p Ttr transthyretin
Previous and Unofficial Names
carpal tunnel syndrome 1 [3] | CTS1 | PALB | prealbumin, amyloidosis type I
Database Links
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
RefSeq Nucleotide
RefSeq Protein
Selected 3D Structures
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
Other Binding Ligands
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Value Parameter Reference
tafamidis Hs Binding 8.7 pKd 2
pKd 8.7 (Kd 2x10-9 M) [2]
Clinically-Relevant Mutations and Pathophysiology
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


Show »

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. 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. U.S.A., 110 (24): 9992-7. [PMID:23716704]

How to cite this page

Carrier proteins: transthyretin. Last modified on 13/02/2017. Accessed on 23/08/2019. IUPHAR/BPS Guide to PHARMACOLOGY,