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TTR Gene

protein-coding GIFtS: 63

GC18P027425

transthyretin
(Previous names: prealbumin, amyloidosis type I )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PALB)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ATTR ^³
HsT2651 ^¹, ²
PALB ^², ³, ⁵
Prealbumin ^³
TBPA ^², ³
transthyretin ^²

Descriptions
prealbumin, amyloidosis type I ^¹, ²
thyroxine-binding prealbumin ^²

External Ids
HGNC: 12405¹
Entrez Gene: 7276²
UniProtKB: P02766³
Ensembl: ENSG00000118271⁷

Search outside databases for aliases for TTR gene

Previous GC identifers: GC18P029194 GC18P028991 GC18P027423

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for TTR:

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]

UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766

Function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to

the brain

Gene Wiki entry for TTR (Transthyretin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TTR gene

Entrez Gene cytogenetic band: 18q12.1 Ensembl cytogenetic band: 18q12.1 HGNC cytogenetic band: 18q12.1

TTR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18P027425: (about GC identifiers)

Start:	27,425,838 bp from pter
End:	27,432,793 bp from pter
Size:	6,956 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000018.8 NT_010966.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766 (See protein sequence)

Recommended Name: Transthyretin precursor

Size: 147 amino acids; 15887 Da

Subunit: Homotetramer

Subcellular location: Secreted

Miscellaneous: Two binding sites for thyroxine are located in the channel. Less than 1% of plasma

prealbumin molecules are normally involved in thyroxine transport. L-thyroxine binds to the

transthyretin by an order of magnitude stronger than does the triiodo-L-thyronine.

Thyroxine-binding globulin is the major carrier protein for thyroid hormones in man

Miscellaneous: About 40% of plasma transthyretin circulates in a tight protein-protein complex with

the plasma retinol-binding protein (RBP). The formation of the complex with RBP stabilizes the

binding of retinol to RBP and decreases the glomerular filtration and renal catabolism of the

relatively small RBP molecule. There is evidence for 2 binding sites for RBP, one possibly being a

region that includes Ile-104, located on the outer surface of the transthyretin molecule

PDB structures from and Proteopedia :

1BM7 (3D)

1BMZ (3D)

1BZ8 (3D)

1BZD (3D)

1BZE (3D)

1DVQ (3D)

1DVS (3D)

1DVT (3D)

1DVU (3D)

1DVX (3D)

1DVY (3D)

1DVZ (3D)

1E3F (3D)

1E4H (3D)

1E5A (3D)

1ETA (3D)

1ETB (3D)

1F41 (3D)

1F64 (3D)

1F86 (3D)

1FH2 (3D)

1FHN (3D)

1G1O (3D)

1GKO (3D)

1ICT (3D)

1III (3D)

1IIK (3D)

1IJN (3D)

1QAB (3D)

1QWH (3D)

1RLB (3D)

1SOK (3D)

1SOQ (3D)

1THA (3D)

1THC (3D)

1TLM (3D)

1TSH (3D)

1TT6 (3D)

1TTA (3D)

1TTB (3D)

1TTC (3D)

1TTR (3D)

1TYR (3D)

1TZ8 (3D)

1U21 (3D)

1X7S (3D)

1X7T (3D)

1Y1D (3D)

1Z7J (3D)

1ZCR (3D)

1ZD6 (3D)

2B14 (3D)

2B15 (3D)

2B16 (3D)

2B77 (3D)

2B9A (3D)

2F7I (3D)

2F8I (3D)

2FBR (3D)

2FLM (3D)

2G3X (3D)

2G3Z (3D)

2G4E (3D)

2G4G (3D)

2G5U (3D)

2G9K (3D)

2GAB (3D)

2H4E (3D)

2NOY (3D)

2PAB (3D)

2QEL (3D)

2QGB (3D)

2QGC (3D)

2QGD (3D)

2QGE (3D)

2ROX (3D)

2ROY (3D)

2TRH (3D)

2TRY (3D)

3B56 (3D)

3BSZ (3D)

3BT0 (3D)

3CBR (3D)

3CFM (3D)

3CFN (3D)

3CFQ (3D)

3CFT (3D)

3CN0 (3D)

3CN1 (3D)

3CN2 (3D)

3CN3 (3D)

3CN4 (3D)

3CXF (3D)

3CYK (3D)

3D2T (3D)

3D7P (3D)

3DGD (3D)

3DID (3D)

3ESN (3D)

3ESO (3D)

3ESP (3D)

3FC8 (3D)

3FCB (3D)

5TTR (3D)

Secondary accessions: Q6IB96 Q9UBZ6 Q9UCM9

REFSEQ proteins: NP_000362.1

ENSEMBL proteins:

ENSP00000237014

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Prealbumin)
	Human Recombinant Proteins from Abnova (TTR)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005615	extracellular space	IEA	--

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Antibodies for TTR:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for TTR
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Prealbumin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TTR)
	Novus Biologicals Antibodies for TTR

Assays for TTR:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P02766

ProtoNet protein and cluster: P02766

1 Blocks protein family: IPB000895 Transthyretin

UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766

Domain: Each monomer has two 4-stranded beta sheets and the shape of a prolate ellipsoid.

Antiparallel beta-sheet interactions link monomers into dimers. A short loop from each monomer

forms the main dimer-dimer interaction. These two pairs of loops separate the opposed, convex

beta-sheets of the dimers to form an internal channel

Similarity: Belongs to the transthyretin family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TTR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TTR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000371

Applied Biosystems Silencer® siRNAs for TTR

Sigma-Aldrich siRNA and siRNA Panels for TTR

Sigma-Aldrich shRNA for TTR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for TTR
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000371
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000371
untagged cDNA clone in CMV expression vector: NM_000371

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000371

UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766

Function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to

the brain

Genatlas biochemistry entry for TTR:

transthyretin (prealbumin)

3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ttr):

endocrine/exocrine gland

homeostasis/metabolism

vision/eye

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005179	hormone activity	IEA	--
GO:0005496	steroid binding	IEA	--
GO:0015349	thyroid hormone transmembrane transporter activity	IEA	--
GO:0016918	retinal binding	IEA	--
GO:0019841	retinol binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for TTR (Your Favorite Gene powered by Ingenuity)

Acute Phase Response Signaling

GeneDecks TTR for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for TTR

5/73 Interacting proteins for TTR (P02766² ENSP00000237014³) via UniProtKB, MINT, and/or STRING (see all 73 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AGER	Q15109²	MINT-2635425 MINT-2635447
ENSG00000206253	Q15109²	MINT-2635425 MINT-2635447
ENSG00000206320	Q15109²	MINT-2635425 MINT-2635447
CHD3	Q12873²	MINT-63352
DDR1	Q08345²	MINT-64070

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006590	thyroid hormone generation	IEA	--
GO:0006810	transport	NAS	10841549

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for TTR:

Antagonist Ligand

Browse Tocris compounds for TTR
10/44 Novoseek chemical compound relationships for TTR gene (see all 44 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
stresson	76.96	1	12236086 (1)
4'-iodo-4'-deoxydoxorubicin	59.19	11	10998371 (4), 7708755 (1), 10854215 (1), 16266291 (1) (see all 5)
3,3'-diiodo-l-thyronine	56.40	1	1730601 (1)
pentabromophenol	56.40	5	10957627 (2)
thioflavin t	51.90	5	11306576 (1), 14592420 (1), 8634341 (1), 18162431 (1)
tabtoxin	51.69	5	12527305 (1), 12871145 (1)
triiodothyronine	51.45	50	16879610 (3), 2109784 (2), 1700701 (1), 8156097 (1) (see all 22)
fibrinogen	48.97	60	1724187 (3), 9308758 (2), 15271648 (2), 11328904 (2) (see all 44)
cholesterol	48.38	148	17693625 (4), 9520912 (4), 11983009 (3), 8156097 (2) (see all 91)
methionine	44.53	40	9840068 (1), 1655325 (1), 9395793 (1), 15485482 (1) (see all 23)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TTR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TTR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000371

Sigma-Aldrich siRNA and siRNA Panels for TTR

Sigma-Aldrich shRNA for TTR

Explore Sigma-Aldrich super-pooled esiRNAs

REFSEQ mRNAs for TTR gene:

NM_000371.3

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000371
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000371
                                 untagged cDNA clone in CMV expression vector: NM_000371

Additional cDNA sequence:

AF162690.1 AK312051.1 BC005310.1 BC020791.1 BT007189.1 CR456908.1 D00096.1 DQ839490.1

K02091.1 M10605.1 M11714.1 U19780.1 X59498.1

24/26 DOTS entries (see all 26 ):

DT.100045780 DT.99949554 DT.100893448 DT.100893449 DT.100893460 DT.100893447 DT.121106434 DT.92468651

DT.121106417 DT.320451 DT.100893450 DT.92468671 DT.100893452 DT.92044873 DT.95371616 DT.100664681

DT.100893459 DT.95371447 DT.100893453 DT.100893461 DT.121106401 DT.121106403 DT.121106410 DT.121106428

24/2837 AceView cDNA sequences (see all 2837 ):

BM663306 BM547873 BQ654155 BM311219 BM353193 AI824878 CA946898 BM663007

BU951408 BU784621 BQ632499 X59498 BU785477 CA394022 BQ286423 BQ788150

BU076141 AA757575 BQ417192 BI792367 BQ269284 BM312786 CA865657 BQ786890

highest scoring ESTs for TTR:

D00096 AA059395 AA062577 AA062990 AA063033 AA063066 AA063095 AA063194 AA318199 AA318417

Unigene Cluster for TTR:

Transthyretin

Hs.427202 [show with all ESTs]

Unigene Representative Sequence: CD001019

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for TTR

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b
SP1:									-
SP2:
SP3:							-		-

About this scheme

ECgene alternative splicing isoforms for TTR

1 Ensembl transcript including schematic representation:

ENST00000237014

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TTR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TTR

¹ / ² / ³

3 probe-sets matching TTR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32252_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	D00096	1.00	1.00	1.00	1
209660_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF162690	0.80	1.00	0.91	1
209660_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks TTR for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAACCAAGAG

SOURCE GeneReport for Unigene cluster: Hs.427202
Expression variation in blood from EXPOLDB for TTR
UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766
Tissue specificity: Most abundant in the choroid plexus. Also present in the liver

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TTR gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TTR¹	--	transthyretin	87.3(n) 85.03(a)	480167 XM_537290.2 XP_537290.1
chimpanzee (Pan troglodytes)	TTR¹	--	transthyretin	98.19(n) 97.96(a)	493188 NM_001009137.1 NP_001009137.1
cow (Bos taurus)	TTR¹	--	transthyretin	85.84(n) 85.62(a)	280948 NM_173967.2 NP_776392.1
rat (Rattus norvegicus)	Ttr¹	--	transthyretin	82.42(n) 82.19(a)	24856 NM_012681.1 NP_036813.1
mouse (Mus musculus)	Ttr^{1, 5}	18 (7.00 cM)⁵	transthyretin^{1, 5}	82.19(n)¹ 82.19(a)¹	22139¹ NM_013697.2¹ NP_038725.1¹ AA408768⁵ AI787086⁵ (see all 27)

About this table Species with no ortholog for TTR

ENSEMBL Gene Tree for TTR

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/86 NCBI SNPs in TTR are shown (see all 86 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 57)

AB	SNP ID	Valid	Chr 18 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs13381522^1,2	A,C,F,H	27423931(+)	`GGATTT/CTCTCC`	1	--	ng5¹		6		EU EA NA	442
	rs1800458^1,2	C,F,H,O	27426863(+)	`GCACCG/AGTGAA`	1	S/G	mis¹ ese³		12		NA EU EA WA	1052
	rs1667246^1,2	C,F,H,O	27424011(+)	`AAAAGG/ACTTGT`	1	--	ng5¹		8		MN NA EU EA WA	742
	rs3764478^1,2	C,F,H	27424481(-)	`AAATAC/AAAGCC`	1	--	ng5¹		16		EA NA EU WA	2686
	rs3764477^1,2	F,H	27424707(-)	`CTGGCC/TGACTT`	1	--	ng5¹		4		EU EA WA	418
--	rs1791228^1,2	A,C	27433038(+)	`CATTCC/TAAGGG`	1	--	ng3¹		0	--	--	--	--
	rs1551005^1,2	H	27425688(+)	`CTCTAG/CACAAG`	1	--	ng5¹		5		MN EU EA WA	562
	rs3794886^1,2	H	27424888(-)	`TTTCAA/GCCTGG`	1	--	ng5¹		4		EU EA WA	418
--	rs11541799^1,2	H	27429139(+)	`TAGAAG/AGGATA`	1	R/G	mis¹		4		EU EA WA	406
--	rs11541800^1,2	H	27426914(+)	`GAGGCA/GGTCCT`	1	S/G	mis¹		4		EU EA WA	406

About this table

HapMap Linkage Disequilibrium images for TTR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 176300

UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766

Defects in TTR are the cause of amyloidosis type 1 (AMYL1) [MIM:176300]. AMYL1 is a

hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can

form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal

tunnel syndrome, systemic senile amyloidosis

Defects in TTR are the cause of amyloidosis type 7 (AMYL7) [MIM:105210]; also known as

leptomeningeal amyloidosis or meningocerebrovascular amyloidosis. AMYL7 is a form of hereditary

transthyretin amyloidosis characterized by primary involvement of the central nervous system.

Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia

arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads

to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures,

stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the

vitreous humor. Mild systemic amyloidosis may occurr

Defects in TTR are a cause of hyperthyroxinemia [MIM:176300]

10/99 Novoseek disease relationships for TTR gene (see all 99 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
familial amyloid polyneuropathies	95.82	171	9922152 (2), 19279259 (2), 10506096 (2), 16751191 (2) (see all 94)
amyloidosis	91.61	591	19075702 (8), 18537267 (6), 11966704 (5), 10827225 (5) (see all 99)
amyloid neuropathies	91.22	34	10882995 (3), 11523162 (2), 17094098 (2), 8509786 (2) (see all 23)
polyneuropathy	91.10	360	10919188 (3), 8089102 (2), 1932142 (2), 9818053 (2) (see all 99)
amyloidosis hereditary	90.85	35	1301926 (2), 9090525 (2), 12376880 (1), 8810738 (1) (see all 20)
amyloidosis systemic	90.61	135	7474944 (3), 2349941 (2), 2015890 (2), 11409037 (2) (see all 77)
amyloidosis familial	87.35	35	8873510 (2), 10439117 (2), 1570831 (1), 8203468 (1) (see all 19)
amyloidosis, leptomeningeal	86.66	9	18579156 (1), 16399646 (1), 16690499 (1), 8992435 (1) (see all 6)
type i familial amyloid polyneuropathy	86.21	18	10506096 (2), 1858483 (1), 15116456 (1), 9988146 (1) (see all 12)
amyloid deposition	85.24	63	9232027 (3), 10071047 (2), 1992765 (2), 17554795 (2) (see all 36)

About this table

GeneTests: TTR

Transthyretin Amyloidosis

Human Gene Mutation Database: TTR
Genetic Association Database: TTR
Human Genome Epidemiology Navigator: TTR (7 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/1437 PubMed articles for TTR gene (see all 1437 ):

A new transthyretin mutation associated with amyloid cardiomyopathy. (PubMed id 1570831)^{1, 3, 4, 6} Saraiva M.J.M.... Goodman D.S. (1992)
A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. (PubMed id 1734866)^{1, 3, 4, 6} Murakami T.... Araki S. (1992)
A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. (PubMed id 1520326)^{1, 3, 4, 6} Murakami T.... Ando M. (1992)
A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. (PubMed id 1362222)^{1, 3, 4, 6} Uemichi T.... Benson M.D. (1992)
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. (PubMed id 1351039)^{3, 4, 6} Jacobson D.R.... Buxbaum J.N. (1992)
Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (PubMed id 12876326)^{1, 3, 4} Lim A....Costello C.E. (2003)
Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. (PubMed id 7474944)^{1, 3, 4} Gustavsson A....Westermark P. (1995)
Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. (PubMed id 8038017)^{1, 3, 4} Hesse A.... Maisch B. (1993)
The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP. (PubMed id 10052934)^{1, 3, 4} Naylor H.M. and Newcomer M.E. (1999)
The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. (PubMed id 8089102)^{1, 3, 4} Berni R....Benson M.D. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7276	HGNC: 12405	AceView: TTR	Ensembl:ENSG00000118271	euGenes: HUgn7276
ECgene: TTR	H-InvDB: TTR

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=TTR
Wikipedia	http://en.wikipedia.org/wiki/Transthyretin

Licensable Technologies for TTR
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for TTR:

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TTR Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for TTR

Summaries
for TTR

Genomic Location
for TTR

Proteins
for TTR

Protein Domains/
Families
for TTR

Gene Function
for TTR

Pathways & Interactions
for TTR

Drugs & Compounds
for TTR

Transcripts
for TTR

Expression
for TTR

Orthologs
for TTR

Paralogs
for TTR

SNPs/Variants
for TTR

Disorders & Mutations
for TTR

Medical News
for TTR

Publications
for TTR

Search for TTR

Genome Databases showing TTR

Other Databases showing TTR

Specialized Databases showing TTR

Licensable Technologies
for TTR

Services
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TTR Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor TTR

Summariesfor TTR

Genomic Locationfor TTR

Proteinsfor TTR

Protein Domains/Familiesfor TTR

Gene Functionfor TTR

Pathways & Interactionsfor TTR

Drugs & Compoundsfor TTR

Transcriptsfor TTR

Expression for TTR

Orthologsfor TTR

Paralogsfor TTR

SNPs/Variantsfor TTR

Disorders & Mutationsfor TTR

Medical Newsfor TTR

Publicationsfor TTR

Search for TTR

Genome Databases showing TTR

Other Databases showing TTR

Specialized Databases showing TTR

Licensable Technologiesfor TTR

Servicesfor TTR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TTR

Summaries
for TTR

Genomic Location
for TTR

Proteins
for TTR

Protein Domains/
Families
for TTR

Gene Function
for TTR

Pathways & Interactions
for TTR

Drugs & Compounds
for TTR

Transcripts
for TTR

Expression
for TTR

Orthologs
for TTR

Paralogs
for TTR

SNPs/Variants
for TTR

Disorders & Mutations
for TTR

Medical News
for TTR

Publications
for TTR

Licensable Technologies
for TTR

Services
for TTR