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FLASH GENE
Symbol MGME1 contributors: mct - updated : 22-06-2015
HGNC name mitochondrial genome maintenance exonuclease 1
HGNC id 16205
Corresponding disease
MTDPS11 mitochondrial DNA depletion syndrome 11
Location 20p12.1      Physical location : -
Synonym name
  • hypothetical protein LOC92667
  • chromosome 20 open reading frame 72
    • Synonym symbol(s) FLJ14597, bA504H3.4, C20orf72, DDK1, MTDPS11, C20orf72, MTDPS11, bA504H
    DNA
    TYPE functioning gene
    STRUCTURE 22.27 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2142 39.3 344 - 2013 23313956
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY PD-(D/E)XK superfamily
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • mitochondrially localized metal-dependent DNase lacking detectable ribonuclease activity
  • mitochondrial RecB-type exonuclease, that cleaves single-stranded DNA and processes DNA flap substrates
  • MGME1-mediated mtDNA processing is essential for mitochondrial genome maintenance
  • mitochondrial exonuclease found to be involved in the processing of mitochondrial DNA (mtDNA) during replication
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the mitochondrial replicase POLG, suggesting that it is a constituent of the mitochondrial replisome, to which it provides an additional exonuclease activity
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTDPS11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS