Mitochondrial Genome Maintenance Exonuclease 1

Alternative Names

  • MGME1
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OMIM Number

615076

NCBI Gene ID

92667

Uniprot ID

Q9BQP7

Length

22,270 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Mitochondrial genome maintenance exonuclease 1

Molecular Mass

39421 Da

Amino Acid Count

344

Genomic Location

chr20:17,968,853-17,991,122

Gene Map Locus
20p11.23

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001310338.2:c.456G>ALebanonchr20:17970315PathogenicMitochondrial DNA Depletion Syndrome 11NG_042236.1:g.6425G>A; NM_001310338.2:c.456G>A; NP_001297267.1:p.Trp152Ter58777694340051
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