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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
Corresponding disease
AMYL7 amyloidosis VII
APF familial amyloid polyneuropathy I
FACM familal amyloid, cardiomyopathy
SSCA amyloidosis, senile, systemic/cardiac (TTR deposit)
Location 18q12.1      Physical location : 29.171.729 - 29.178.984
Synonym name
  • serum cancer protein
  • prealbumin
  • transthyretin
  • prealbumin, amyloidosis type I
  • Synonym symbol(s) PALB, TBPA, HsT2651
    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
    Physical map
    DSC3 18q12.1 desmocollin 3 DSC2 18q12.1 desmocollin 2 DSC1 18q12.2 desmocollin 1 DSG1 18q12.1 desmoglein 1 DSG4 18q12.1 desmoglein 4 DSG3 18q12.1 desmoglein 3 (pemphigus vulgaris antigen) DSG2 18q12.1 desmoglein 2 TTR 18q12.1-q12.2 transthyretin (prealbumin, amyloidosis type I) B4GALT6 18q11 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 LOC390845 18 similar to KIAA0563-related gene LOC390846 18 similar to 27 kDa Golgi SNARE protein (Golgi SNAP receptor complex member 2) (Membrin) MCART2 18q12.1 mitochondrial carrier triple repeat 2 KIAA1012 18q11.2 mitochondrial carrier triple repeat 2 LOC342705 18q12.1 similar to 6-phosphogluconate dehydrogenase, decarboxylating LOC390847 18 similar to epsin 2 isoform a; Eps15 binding protein RNF125 18q12.1 ring finger protein 125 LOC390848 18 similar to 40S ribosomal protein S15a RNF138 18q12.1 ring finger protein 138 MEP1B 18q12.2-q12.3 meprin A, beta FLJ21610 KIAA1384 18q12.1 KIAA1384 protein LOC374864 18q12.1 hypothetical protein LOC374864 LOC147354 18q12.1 similar to additional sex combs like 2; polycomb group protein ASXH2 KIAA1713 18q11 KIAA1713 protein
    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