MGP Database

MGP003217

Record overview

MGPD ID	MGP003217
Gene ID	7276
Species	Homo sapiens (Human)
Gene Name	transthyretin
Gene Symbol	TTR
Synonyms	CTS; CTS1; PALB; TBPA; HEL111; HsT2651;
Alternate names	transthyretin; ATTR; carpal tunnel syndrome 1; epididymis luminal protein 111; prealbumin, amyloidosis type I; thyroxine-binding prealbumin;
Chromosome	18
Map Location	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]
Orthologs	View orthologs and multiple alignments for TTR

Proteins

transthyretin precursor

Refseq ID:	NP_000362
Protein GI:	4507725
UniProt ID:	P02766
mRNA ID:	NM_000371
Length:	147
RefSeq Status:

`MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWK ALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE`

sig_peptide: 1..20
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2144
peptide sequence: 
MASHRLLLLCLAGLVFVSEA

mat_peptide: 21..147
product: transthyretin
calculated_mol_wt: 13761
peptide sequence: 
GPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDS
GPRRYTIAALLSPYSYSTTAVVTNPKE