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C20ORF72


Official Full Name
mitochondrial genome maintenance exonuclease 1
Organism
Homo sapiens
Gene ID
92667
Background
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. [provided by RefSeq, Jul 2015]
Synonyms
MGME1; DDK1; MTDPS11; C20orf72; bA504H3.4

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