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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
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