Symbol: Name: ID: |
TTR transthyretin GFS:2207 |
Gene name: | TTR |
Chromosome: | 18q12.1 |
Previous Symbols: | PALB |
Previous Names: | prealbumin, amyloidosis type I |
Aliases: | HsT2651 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98865 | Rat Genome Database ID: | RGD:3916 |
HGNC ID: | HGNC:12405 | RefSeq IDs: | NM_000371 |
Entrez Gene ID: | 7276 | Ensembl Gene ID: | ENSG00000118271 |
VEGA IDs: | OTTHUMG00000131984 | UniProt ID: | P02766 |
UCSC ID: | uc002kwx.3 | OMIM ID: | 176300 |
Pubmed: | |||
CCDS IDs: | CCDSCCDS11899.1 |
Transthyretin (TTR) is a serum and cerebrospinal fluid carrier of the thyroid hormone thyroxine (T4) and retinol. This is how transthyretin gained its name, transports thyroxine and retinol. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for TTR gene
Catalog | Product Name | Application | Company |
GFS:E02207 | transthyretin; ELISA kit | ELISA | n/a |
GFS:A02207 | transthyretin; Anti | ANTIBODIES | n/a |
GFS:P02207 | transthyretin; Protien | Protien | n/a |