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FLASH GENE
Symbol TGM6 contributors: mct - updated : 27-08-2014
HGNC name transglutaminase 6
HGNC id 16255
DNA
TYPE functioning gene
STRUCTURE 51.85 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 splicing 2292 79.3 706 - Thomas (unpublished)
12 splicing 2158 70.5 625 - Thomas (unpublished)
  • lacking sequence from exon 12 encoding for the second beta-barrel domain
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebrain  predominantly Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure
  • at least two beta-barrel domain
    • HOMOLOGY
    interspecies ortholog to murine Tgm6
    Homologene
    FAMILY
  • transglutaminase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing R-glutaminyl-peptide, amine-gamma-glutamyl transferase reaction
  • critical role for TGM6 in cortical and cerebellar neurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • one Ca2+ per subunit
    • protein
  • interacts with polyQ proteins and promotes the formation of polyQ aggregates
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA35
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    promotes the formation of polyQ aggregates and the conversion of soluble polyQ into insoluble polyQ aggregates
    Susceptibility to acute myeloid leukaemia (AML)
    Variant & Polymorphism other
  • missense mutation in TGM6 c.1550T>G, p.(L517W) increasing the risk of AML
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS