DNA2 encodes DNA replication helicase/nuclease 2 (1,060 aa). Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Highest expression in Cells EBV-transformed lymphocytes (19.3 TPM) and Brain Cerebellum (6.4 TPM).

Mitochondrial DNA deletion syndrome with progressive myopathy is associated with mutations in the DNA2 gene on chromosome 10.

The DNA2 protein participates in Recruitment of Dna2 endonuclease, Recruitment of DNA2 endonuclease to the C strand, and Removal of RNA primer and dissociation of RPA and Dna2 pathways.

DNA2 is classified as a druggable target (Enzyme category) with score 13.1.

Genetic testing for DNA2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 2 very common features, 20 common features.

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

No clinical trials have been registered for mitochondrial DNA deletion syndrome with progressive myopathy.

12 publications have been identified in PubMed for mitochondrial DNA deletion syndrome with progressive myopathy. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (8%).

Recent Publications

• Wang J (2026). [PMID: 41074779](https://pubmed.ncbi.nlm.nih.gov/41074779/). *Clin Genet*. [Basic Science / Preclinical]

• Lang SH (2026). [PMID: 41610485](https://pubmed.ncbi.nlm.nih.gov/41610485/). *Mol Genet Metab*. [Case Report / Case Series]

• Banerjee S (2026). [PMID: 41850596](https://pubmed.ncbi.nlm.nih.gov/41850596/). *Mitochondrion*. [Epidemiology / Natural History]

• Capece G (2026). [PMID: 41841518](https://pubmed.ncbi.nlm.nih.gov/41841518/). *Eur J Neurol*. [Case Report / Case Series]

• Greenberg-Kushnir N (2025). [PMID: 39397288](https://pubmed.ncbi.nlm.nih.gov/39397288/). *Pediatr Blood Cancer*. [Basic Science / Preclinical]

• Chow E (2025). [PMID: 40516470](https://pubmed.ncbi.nlm.nih.gov/40516470/). *Mol Genet Metab*. [Case Report / Case Series]

• Pan X (2025). [PMID: 41086592](https://pubmed.ncbi.nlm.nih.gov/41086592/). *Mol Genet Metab*. [Basic Science / Preclinical]

• Messina C (2025). [PMID: 40524992](https://pubmed.ncbi.nlm.nih.gov/40524992/). *Cureus*. [Case Report / Case Series]

• Li BY (2025). [PMID: 41105897](https://pubmed.ncbi.nlm.nih.gov/41105897/). *Neurology*. [Case Report / Case Series]

• Chujo T (2025). [PMID: 39719325](https://pubmed.ncbi.nlm.nih.gov/39719325/). *RNA*. [Review / Meta-Analysis]