MGME1 Chromosome 20
Mitochondrial genome maintenance exonuclease 1
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What This Gene Does
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]
Gene Info
Gene Group
Exonucleases
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000125871
Associated Conditions (2)
Mitochondrial DNA depletion syndrome 11
Inborn genetic diseases
Key Variants
RS143218981
Conflicting classifications of pathogenicity
Health Risk
RS143417446
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11
Health Risk
RS150656271
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11
Health Risk
RS767851553
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1192636711
Pathogenic
Health Risk
RS1555789140
Pathogenic
Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11
Health Risk
RS2035690432
Pathogenic
Health Risk
RS2035849257
Pathogenic
Health Risk
RS2515216801
Pathogenic
Health Risk
RS2515221970
Pathogenic
Health Risk
RS372291078
Pathogenic
Health Risk
RS587776944
Pathogenic
Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143218981 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143417446 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11 |
| RS150656271 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11 |
| RS767851553 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1192636711 | Health Risk | Pathogenic | — |
| RS1555789140 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11 |
| RS2035690432 | Health Risk | Pathogenic | — |
| RS2035849257 | Health Risk | Pathogenic | — |
| RS2515216801 | Health Risk | Pathogenic | — |
| RS2515221970 | Health Risk | Pathogenic | — |
| RS372291078 | Health Risk | Pathogenic | — |
| RS587776944 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11 |
| RS757302363 | Health Risk | Pathogenic | — |
| RS761126029 | Health Risk | Pathogenic | — |
| RS587776943 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11 |