TTR
Chr 18ADtransthyretin
Also known as: AMYLD1, ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TTR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma
RECRUITINGAnalysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis
RECRUITINGIvosidenib in Participants With Locally Advanced or Metastatic Conventional Chondrosarcoma Untreated or Previously Treated With 1 Systemic Treatment Regimen
RECRUITINGA Multi-center, Prospective, Registry Study to Analyze the Clinical Characteristics and Prognosis of Different Molecular Subtypes of Peripheral T-cell Lymphoma.
NOT YET RECRUITINGFamily-Supervised Prehabilitation to Reduce Postoperative Complications After Neoadjuvant Chemotherapy in Gastric Cancer
NOT YET RECRUITINGIASO208 Injection in the Treatment of Relapsed/Refractory B-cell Malignancies
RECRUITINGA Study of Revumenib in R/R Leukemias Including Those With an MLL/KMT2A Gene Rearrangement or NPM1 Mutation
RECRUITINGA Trial to Learn How the Combination of Fianlimab With Cemiplimab and Chemotherapy Works Compared With Cemiplimab and Chemotherapy for Treating Adult Patients With Advanced Non-small Cell Lung Cancer
ACTIVE NOT RECRUITINGA Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)
RECRUITINGSingle-arm, Multi-center Study Evaluating the Acceptance and Feasibility of a Digital Remote Monitoring Tool Configured for Patients With ATTR-CM: ACO-Monitor
NOT YET RECRUITINGA Study of AB-106 in Subjects With Advanced NSCLC Harboring ROS1 Fusion Gene
ACTIVE NOT RECRUITINGIMP3-saRNA Vaccine in Advanced NSCLC
RECRUITINGExternal Resources
Links to major genomics databases and tools