TTR

Aliases
  • ATTR
  • CTS
  • CTS1
  • Carpal Tunnel Syndrome 1
  • Epididymis Luminal Protein 111
  • HEL111
  • HsT2651
  • PALB
  • Prealbumin
  • Prealbumin, Amyloidosis Type I
  • TBPA
  • TT
  • TTN
  • TTR
  • Thyroxine-Binding Prealbumin
  • Transthyretin
Description
Transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid, is a carrier protein that transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. TT 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, and carpal tunnel syndrome.
Attributes
QA State
Curated
Type
Protein
HGNC Name
TTR
Certifications
  • None
QA State for Breast
Under Review

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

Certifications
  • None
QA State for Ovary
Curated

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.