Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol TGM6 contributors: mct - updated : 27-08-2014
HGNC name transglutaminase 6
HGNC id 16255
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