Identity
HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
C20orf72,DDK1,MTDPS11,bA504H3.4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 92667
MIM: 615076
HGNC: 16205
Ensembl: ENSG00000125871
Variants:
dbSNP: 92667
ClinVar: 92667
TCGA: ENSG00000125871
COSMIC: MGME1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125871 | ENST00000377704 | Q5QPE7 |
| ENSG00000125871 | ENST00000377709 | Q5QPE8 |
| ENSG00000125871 | ENST00000377710 | Q9BQP7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37166417 | 2023 | MGME1 associates with poor prognosis and is vital for cell proliferation in lower-grade glioma. | 2 |
| 37166417 | 2023 | MGME1 associates with poor prognosis and is vital for cell proliferation in lower-grade glioma. | 2 |
| 29572490 | 2018 | Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria. | 43 |
| 30247721 | 2018 | Structural insights into DNA degradation by human mitochondrial nuclease MGME1. | 11 |
| 29572490 | 2018 | Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria. | 43 |
| 30247721 | 2018 | Structural insights into DNA degradation by human mitochondrial nuclease MGME1. | 11 |
| 28711739 | 2017 | Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. | 3 |
| 28711739 | 2017 | Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. | 3 |
| 27220468 | 2016 | MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication. | 33 |
| 27220468 | 2016 | MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication. | 33 |
| 24986917 | 2014 | Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. | 41 |
| 24986917 | 2014 | Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. | 41 |
| 23313956 | 2013 | Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. | 114 |
| 23358826 | 2013 | Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels. | 28 |
| 23313956 | 2013 | Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. | 114 |
Citation
Dessen P
MGME1 (mitochondrial genome maintenance exonuclease 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-01-01
Online version: http://atlasgeneticsoncology.org/gene/53146/mgme1-(mitochondrial-genome-maintenance-exonuclease-1)
