Gene and Protein Information
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

carpal tunnel syndrome 1 [3] | CTS1 | PALB | prealbumin, amyloidosis type I

Database Links
Alphafold	P02766 (Hs), P07309 (Mm), P02767 (Rn)
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
	Description:  Structure of wild-type TTR in complex with tafamidis. PDB Id:  3TCT Ligand:  tafamidis Resolution:  1.3Å Species:  Human References:  2
	Description:  The Structure of V122I Mutant Transthyretin in Complex with Tafamidis PDB Id:  4HIS Ligand:  tafamidis Resolution:  1.2Å Species:  Human References:  4

Download all structure-activity data for this target as a CSV file

Inhibitors
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Reference tafamidis 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

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 Drugs:  Tafamidis 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.