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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
DNA
TYPE functioning gene
STRUCTURE 6.96 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box) (TATA box)
Binding site   enhancer   transcription factor
text structure binding sites for hepatocyte nuclear factor
MAPPING cloned Y linked N status confirmed
Map cen - CDH2 - DSC3 - DSC2 - D18S520 - DSC1 - D18S521 - DSG1 - DSG3 - D18S36 - DSG2 - TTR - D18S6 - D18S47 - D18S34 - D18S46 - SSAV1 - DCC - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 938 14 147 - 1995 7643356
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Nervousplexus choroid     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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