The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene.
Immunogen Information
Immunogen
Fusion protein of human MGME1
Swissprot
Q9BQP7
Synonyms
Chromosome 20 open reading frame 72Hypothetical protein LOC92667