| URN | urn:agi-llid:7276 |
|---|---|
| Connectivity | 173 |
| Name | Ttr |
| Description | transthyretin |
| Notes | 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] |
| Pathway | AGER -> CREB/SP1 signaling |
|---|---|
| AGER -> NF-kB signaling | |
| retinoic acid metabolic pathway |
| GO Molecular Function | hormone binding |
|---|---|
| hormone activity | |
| thyroid hormone transmembrane transporter activity |
| GO Cellular Component | extracellular region |
|---|---|
| extracellular space | |
| cytoplasm |
| GO Biological Process | transport |
|---|---|
| thyroid hormone metabolic process |
| Ariadne Ontology | Thyroid hormone import |
|---|
| Group | Thyroid hormone import |
|---|---|
| extracellular region | |
| transport | |
| thyroid hormone metabolic process | |
| hormone binding | |
| hormone activity | |
| thyroid hormone transmembrane transporter activity | |
| extracellular space | |
| cytoplasm |
| MedScan ID | 7276 |
|---|
| Hugo ID | 12405 |
|---|
| Human chromosome position | 18q12.1 |
|---|
| LocusLink ID | 7276 |
|---|---|
| 22139 | |
| 24856 |
| Alias | PALB |
|---|---|
| TBPA | |
| HsT2651 | |
| transthyretin | |
| ATTR | |
| thyroxine-binding prealbumin | |
| prealbumin, amyloidosis type I | |
| D17860 | |
| AA408768 | |
| AI787086 | |
| MGC107649 | |
| prealbumin | |
| LR1 | |
| Transthyretin (prealbumin, amyloidosis type I) | |
| Tt | |
| amyloidosis type I gene | |
| Transthyretin (prealbumin) | |
| TTHY | |
| TTHY_HUMAN | |
| TTR | |
| thyroxin-binding prealbumin |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 176300 |
|---|---|
| 105210 | |
| 115430 | |
| 145680 |
| Mouse chromosome position | 18 7.0 cM |
|---|
| GO ID | 0005179 |
|---|---|
| 0006810 | |
| 0005737 | |
| 0005576 | |
| 0042562 | |
| 0015349 | |
| 0005615 | |
| 0042403 |
| Rat chromosome position | 18p |
|---|
| Swiss-Prot Accession | P02766 |
|---|---|
| Q53WY6 | |
| Q8TDB1 | |
| Q8TDB2 | |
| P07309 | |
| Q5M9K1 | |
| Q9D6A4 | |
| P02767 | |
| Q547K9 | |
| Q549C7 | |
| Q6IB96 | |
| Q9UBZ6 | |
| Q9UCM9 |
| PIR ID | A92542 |
|---|---|
| A91532 | |
| A24132 |
| Unigene ID | Hs.427202 |
|---|---|
| Mm.2108 | |
| Rn.1404 |
| KEGG ID | hsa:7276 |
|---|---|
| mmu:22139 | |
| rno:24856 |
| Swiss-Prot ID | TTHY_RAT |
|---|---|
| TTHY_HUMAN | |
| TTHY_MOUSE | |
| Q5M9K1_MOUSE | |
| Q549C7_HUMAN |
| Cell Localization | Secreted |
|---|---|
| Cytoplasm | |
| Plasma membrane |
| IPI ID | IPI00324380 |
|---|---|
| IPI00022432 | |
| IPI00127560 | |
| IPI00646384 |
| Homologene ID | 317 |
|---|
| RGD ID | 3916 |
|---|
| MGI ID | 98865 |
|---|