TTR

GENE INFORMATION

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Gene name

TTR (HGNC Symbol)

Synonyms

CTS, CTS1, HsT2651, PALB

Description

Transthyretin (HGNC Symbol)

Entrez gene 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]

Chromosome

18

Cytoband

q12.1

Chromosome location (bp)

31591726 - 31599021

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000118271 (version 78.38)

Entrez gene

7276

UniProt

P02766 (UniProt - Evidence at protein level)

neXtProt

NX_P02766

Antibodypedia

TTR antibodies
 

PROTEIN VIEW

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TTR-001
 
TTR-201
 
TTR-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TTR-001 ENSP00000237014
ENST00000237014
P02766
Show all »
Show » Show » 147 15.9 Yes 0
TTR-201 ENSP00000477599
ENST00000610404
Show » 185 20.1 Yes 0
TTR-202 ENSP00000479174
ENST00000613781
A6XMH1
Show all »
Show » 139 15.1 Yes 0