• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


TTR transthyretin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000371 Homo sapiens transthyretin (TTR), mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

*Business Day

Related Services

Gene Symbol TTR
Entrez Gene ID 7276
Full Name transthyretin
Synonyms CTS, CTS1, HEL111, HsT2651, PALB, TBPA
General protein information
Preferred Names
transthyretin
Names
transthyretin
ATTR
carpal tunnel syndrome 1
thyroxine-binding prealbumin
prealbumin, amyloidosis type I
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

18

18q12.1

Summary 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].
Disorder

MIM: 176300

Amyloidosis, hereditary, transthyretin-related, 105210 (3);

mRNA Protein Product Sequence Price Select
NM_000371, 221136767 NP_000362, 4507725 transthyretin precursor ORF Sequence $99.00
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
Reactome
REACT_75925Amyloids
REACT_24968Retinoid metabolism and transport
REACT_111102Signal Transduction
REACT_116125Disease
REACT_118779Extracellular matrix organization
REACT_163874Non-integrin membrane-ECM interactions
REACT_160102Diseases associated with visual transduction
REACT_160125Visual phototransduction
REACT_160130Retinoid cycle disease events
REACT_160156The canonical retinoid cycle in rods (twilight vision)
Homo sapiens (human)TTRNP_000362.1
Pan troglodytes (chimpanzee)TTRNP_001009137.1
Macaca mulatta (Rhesus monkey)TTRXP_001099005.1
Canis lupus familiaris (dog)TTRXP_537290.1
Bos taurus (cattle)TTRNP_776392.1
Mus musculus (house mouse)TtrNP_038725.1
Rattus norvegicus (Norway rat)TtrNP_036813.2
Gallus gallus (chicken)TTRNP_990666.1
Danio rerio (zebrafish)ttrNP_001005598.2
Xenopus (Silurana) tropicalis (western clawed frog)ttrNP_001096539.1
Process
IDNameEvidence
GO:0001523retinoid metabolic processTAS
GO:0006810transportIEA
GO:0007603phototransduction, visible lightTAS
GO:0030198extracellular matrix organizationTAS
GO:0042572retinol metabolic processIEA
Component
IDNameEvidence
GO:0005576extracellular regionNAS
GO:0005576extracellular regionTAS
GO:0005615extracellular spaceIDA
GO:0005737cytoplasmIEA
GO:0043234protein complexIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005179hormone activityIEA
GO:0005515protein bindingIPI
GO:0042562hormone bindingIEA
GO:0042802identical protein bindingIPI
GO:0046982protein heterodimerization activityIEA

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TTR gene?

The TTR gene provides instructions for producing a protein called transthyretin. This protein transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport thyroxine, four transthyretin proteins must be attached (bound) to each other to form a four-protein unit (tetramer). To transport retinol, transthyretin must form a tetramer and also bind to retinol binding protein. Transthyretin is produced primarily in the liver. A small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina).

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.