MGME1
Chr 20ARmitochondrial genome maintenance exonuclease 1
Also known as: C20orf72, DDK1, MTDPS11, bA504H3.4
The protein is a nuclear-encoded mitochondrial RecB-type exonuclease that cleaves single-stranded DNA and is necessary for maintaining mitochondrial genome synthesis. Mutations cause mitochondrial DNA depletion syndrome-11, inherited in an autosomal recessive pattern. The pathogenic mechanism involves dominant-negative effects disrupting mitochondrial DNA maintenance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MGME1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools