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This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
TTR (Transthyretin) is a Protein Coding gene. Diseases associated with TTR include Amyloidosis, Hereditary, Transthyretin-Related and Hyperthyroxinemia, Dystransthyretinemic. Among its related pathways are Signaling by GPCR and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include identical protein binding and hormone activity. An important paralog of this gene is URAD.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005179 | hormone activity | IEA | -- |
GO:0005515 | protein binding | IPI | 986177 |
GO:0042562 | hormone binding | IEA | -- |
GO:0042802 | identical protein binding | IPI | 19861125 |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0032991 | protein-containing complex | IEA | -- |
GO:0035578 | azurophil granule lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
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2 | Metabolism of fat-soluble vitamins | ||
3 | HIV Life Cycle |
.45
|
|
4 | Diseases associated with visual transduction | ||
5 | Aldosterone synthesis and secretion |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0006144 | purine nucleobase metabolic process | IBA | 21873635 |
GO:0007165 | signal transduction | IEA | -- |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0042572 | retinol metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Levothyroxine | Approved | Pharma | Carrier | 0 | ||
tafamidis | Approved, Investigational | Pharma | Target, chaperone | 0 | ||
Liothyronine | Approved, Vet_approved | Pharma | Carrier | 0 | ||
Diclofenac | Approved, Vet_approved | Pharma | Carrier | 412 | ||
Diethylstilbestrol | Approved, Investigational | Pharma | Carrier | 7 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | |||||||||||||||
SP3: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TTR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TTR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TTR 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ttr 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ttr 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TTR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TTR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TTR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TTR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ttr 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397787 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ttr 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG30016 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | R09H10.3 31 |
|
OneToMany | |
ZK697.8 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
181701 | Conflicting Interpretations: Amyloidogenic transthyretin amyloidosis; not provided | 31,595,139(+) |
GA/TC NM_000371.3(TTR):c.220_221inv (p.Glu74Ser) |
||
840757 | Pathogenic: Amyloidogenic transthyretin amyloidosis | 31,592,987(+) |
G/C NM_000371.4(TTR):c.161G>C (p.Arg54Thr) |
MISSENSE | |
842048 | Uncertain Significance: Amyloidogenic transthyretin amyloidosis | 31,598,039(+) |
GGGCTTGGAGACAGGA
NM_000371.4(TTR):c.337-527_349del |
SPLICE_ACCEPTOR | |
842099 | Pathogenic: Amyloidogenic transthyretin amyloidosis | 31,595,142(+) |
C/A NM_000371.4(TTR):c.223C>A (p.Leu75Met) |
MISSENSE | |
845368 | Pathogenic/Likely Pathogenic: Amyloidogenic transthyretin amyloidosis; Charcot-Marie-Tooth disease | 31,595,171(+) |
T/G NM_000371.4(TTR):c.252T>G (p.Phe84Leu) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
amyloidosis, hereditary, transthyretin-related |
|
|
hyperthyroxinemia, dystransthyretinemic |
|
|
carpal tunnel syndrome |
|
|
hereditary amyloidosis |
|
|
pneumonia |
|
|