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FLASH GENE
Symbol MUTYH contributors: mct/npt - updated : 11-06-2010
HGNC name mutY homolog (E. coli)
HGNC id 7527
Corresponding disease
MAP MUTYH-associated polyposis
Location 1p34.1      Physical location : 45.794.914 - 45.806.142
Synonym name A/G-specific adenine DNA glycosylase
Synonym symbol(s) MYH, MUTY, MYHbeta, hMYH, CYP2C, MGC4416
EC.number 3.2.2.-
DNA
TYPE functioning gene
STRUCTURE 11.23 kb     16 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 1905 - 535 - Slupska (1996)
16 - 1794 - 522 - Slupska (1996)
16 - 1791 - 521 - Slupska (1996)
16 - 1710 - 521 - Slupska (1996)
16 - 1945 - 549 - Slupska (1996)
16 - 1936 - 546 - Slupska (1996)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Lymphoid/Immunelymph node    
 thymus   highly
Reproductivefemale systemuteruscervix  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • Mut T-like domain
  • iron sulphur binding domain
  • HOMOLOGY
    interspecies homolog to E.coli mutY
    Homologene
    FAMILY
  • nth/mutY family
  • CATEGORY enzyme , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in the repair of oxidative DNA damage
  • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text DNA repair/endonuclease
    PATHWAY
    metabolism
    signaling
    chromosome instability pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the mismatch repair protein hMSH6
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MAP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in attenuated familial adenomatous polyposis
    Susceptibility
  • to colorectal cancer
  • to attenuated familial adenomatous polyposis
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS