TTR

Gene Information
 
Gene Symbol
TTR
 
Aliases
CTS, CTS1, HEL111, HsT2651, PALB, TBPA
 
Entrez Gene ID
 
Gene Name
Transthyretin
 
Chromosomal Location
18q12.1
 
HGNC ID
 
Summary
This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. (provided by RefSeq, Jan 2009)
 
GeneCards ID
 
UniGene
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0005515 Molecular function Protein binding IPI 16716307
GO:0042802 Molecular function Identical protein binding IPI 19861125
Protein Information
 
Protein Name
Transthyretin
 
Function
Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00576 Transthyretin HIUase/Transthyretin family
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Insulin resistance 19169049
   
References
 
Primary:

Low free plasma levels of retinol-binding protein 4 in insulin-resistant subjects with polycystic ovary syndrome.

Diamanti-Kandarakis E, Livadas S, Kandarakis S A, Papassotiriou I, Margeli A
Endocrine Section, First Department of Medicine, Laiko General Hospital, University of Athens Medical School, Athens 14578, Greece. akandara@otenet.gr
J Endocrinol Invest. 2008 Nov;31(11):950-5.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Retinol-binding protein 4 
Insulin resistance 
 
 
Related 
 
RBP4 and free plasma RBP4 expressed as RBP4/TTR ratio are statistically and significantly lower in insulin-resistant PCOS subjects in comparison to controls. 

 

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