Features include always present findings: Increased circulating lactate concentration, Global developmental delay, and Decreased activity of mitochondrial complex I; and common findings: Axial hypotonia, Microcephaly, Enlarged heart (cardiomegaly), and Loss of previously acquired skills (developmental regression) and others.

NDUFC2 encodes NADH:ubiquinone oxidoreductase subunit C2 (119 aa). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis but required for the complex assembly. Highest expression in Adrenal Gland (98.4 TPM) and Brain Cerebellar Hemisphere (97.6 TPM).

Mitochondrial complex I deficiency, nuclear type 36 is associated with mutations in the NDUFC2 gene on chromosome 11.

NDUFC2 is classified as a druggable target (Enzyme category) with score 0.3.

Genetic testing for NDUFC2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 15 common features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 36.

2 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 36. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Dou K (2026). [PMID: 41805567](https://pubmed.ncbi.nlm.nih.gov/41805567/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

• Zhao T (2025). [PMID: 40164634](https://pubmed.ncbi.nlm.nih.gov/40164634/). *NPJ Genom Med*. [Review / Meta-Analysis]