rs778604585
This variant is located in the MGME1 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout MGME1
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]
View all MGME1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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