MGME1 encodes mitochondrial genome maintenance exonuclease 1 (344 aa). Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Highest expression in Skin Not Sun Exposed Suprapubic (42.5 TPM) and Skin Sun Exposed Lower leg (41.2 TPM).

Mitochondrial DNA depletion syndrome 11 is associated with mutations in the MGME1 gene on chromosome 20.

The MGME1 protein participates in Strand-asynchronous mitochondrial DNA replication pathway.

MGME1 is classified as a druggable target with score 0.0.

Genetic testing for MGME1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial DNA depletion syndrome 11 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 24 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for mitochondrial DNA depletion syndrome 11.

141 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 11. Research spans Review / Meta-Analysis (56%), Basic Science / Preclinical (20%), and Case Report / Case Series (8%).

Recent Publications

• Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]

• Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]

• Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Other]

• Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]

• Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]

• Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Current opinion in gastroenterology*. [Review / Meta-Analysis]

• Acikgoz NB (2026). [PMID: 41508548](https://pubmed.ncbi.nlm.nih.gov/41508548/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology*. [Gene Therapy / Novel Therapeutics]

• Calafat M (2025). [PMID: 40081635](https://pubmed.ncbi.nlm.nih.gov/40081635/). *Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association*. [Review / Meta-Analysis]

• Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Developmental medicine and child neurology*. [Diagnostic / Biomarker]