MGME1 (mitochondrial genome maintenance exonuclease 1)

2013-01-01  

Identity

HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
C20orf72,DDK1,MTDPS11,bA504H3.4
FUSION GENES

Other Information

Locus ID:

NCBI: 92667
MIM: 615076
HGNC: 16205
Ensembl: ENSG00000125871

Variants:

dbSNP: 92667
ClinVar: 92667
TCGA: ENSG00000125871
COSMIC: MGME1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125871ENST00000377704Q5QPE7
ENSG00000125871ENST00000377709Q5QPE8
ENSG00000125871ENST00000377710Q9BQP7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
233139562013Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.77
249869172014Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.23
233588262013Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
272204682016MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication.16
295724902018Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.12
302477212018Structural insights into DNA degradation by human mitochondrial nuclease MGME1.2
287117392017Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.0

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