LongevityMap Gene
Gene details
- HGNC symbol
- TTR
- Aliases
- CTS; CTS1; PALB; TBPA; HEL111; HsT2651
- Common name
- transthyretin
- Description
- 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]
- Cytogenetic Location
- 18q12.1
- UCSC Genome Browser
- View 18q12.1 on the UCSC genome browser
- OMIM
- 176300
- Ensembl
- ENSG00000118271
- UniProt/Swiss-Prot
- E9KL36_HUMAN
- Entrez Gene
- 7276
- UniGene
- 427202
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- ZK697.8
- Danio rerio
- ttr
- Drosophila melanogaster
- CG30016
- Mus musculus
- Ttr
- Rattus norvegicus
- Ttr
- Schizosaccharomyces pombe
- SPCC285.04
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- Danish
- Study Design
- Two SNPs (rs121918095 (R104H), rs28933981 (T119M)) were examined in 68,602 individuals during a mean follow-up of 32 years.
- Conclusions
- Only T119M heterozygotes were found in the population. R104H was not detected. The heterozygotes had decreased risk of cerebrovascular disease and increased life expectancy in the general population comparing to the noncarriers.
- Indentifier
- rs121918095
- Reference