| Entrez Gene ID |
92667 |
| Official Gene Symbol |
MGME1 (GeneCards) |
| Full name |
mitochondrial genome maintenance exonuclease 1 |
| Location |
20p11.23 |
| Other ids |
Vega : OTTHUMG00000031955
MIM : 615076
HGNC : HGNC:16205
Ensembl : ENSG00000125871
|
| Other names |
DDK1,
MTDPS11,
C20orf72,
bA504H3.4
|
| 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] |