Gene Symbol | MGME1 |
Entrez Gene ID | 92667 |
Full Name | mitochondrial genome maintenance exonuclease 1 |
Synonyms | C20orf72,DDK1,MTDPS11,bA504H3.4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial DNA depletion syndrome 11, 615084 (3) |