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FLASH GENE

Symbol

TTR

contributors: mct/pgu - updated : 30-06-2009

HGNC name	transthyretin (prealbumin, amyloidosis type I)
HGNC id	12405

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000371 4 - 938 NP_000362 14 147 - 1995 7643356

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Homo sapiens Nervous plexus choroid         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	pancreatic islets

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure	two beta sheets composed of eight beta strands
	a small amount of alpha helix

mono polymer

homomer , tetramer

HOMOLOGY

interspecies	ortholog to murine Ttr
	ortholog to rattus Ttr

Homologene

FAMILY

transthyretin family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	transporting thyroxine from the bloodstream to the brain
	tetrameric binding protein involved in the transport of thyroid hormones and in the cotransport of retinol by forming a complex in plasma with retinol-binding protein
	implicated in the sequestration of amyloid beta peptide (Abeta), preventing its deposition

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forming a complex with retinol binding protein RBP4
	TTR-MT1A/MT2A protein complex

INTERACTION

DNA

RNA

small molecule	other,
	retinal
	retinol
	steroid

protein	thyroid hormone
	substrate of PARK7
	interaction with RBP
	interaction between TTR and metallothionein 2 (MT2A) in human liver
	blocks retinol uptake and cell signaling by the holo-retinol-binding protein receptor STRA6

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FACM , SSCA , AMYL7 , APF

related resource

Database on Transthyretin Mutations

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in sera of cholangiocarcinom patients

Susceptibility

Variant & Polymorphism

Candidate gene	may be complementary markers of CA19-9 in diagnosis for cholangiocarcinoma
Marker
Therapy target	TTR-MT1A/MT2A complexes may be functionally significant not only in healthy conditions but also in Abeta deposition in Alzheimer disease, thereby providing a novel potential therapeutic target

ANIMAL & CELL MODELS