Features include always present findings: Lactic acidosis and Decreased activity of mitochondrial complex I; and common findings: Generalized hypotonia, Motor delay, Failure to thrive, and Nystagmus and others. 29 total HPO annotations.

NDUFS2 encodes NADH:ubiquinone oxidoreductase core subunit S2 (463 aa). Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Highest expression in Muscle Skeletal (154.5 TPM) and Ovary (130.0 TPM).

Mitochondrial complex I deficiency, nuclear type 6 is associated with mutations in the NDUFS2 gene on chromosome 1.

NDUFS2 is classified as a druggable target (Enzyme category) with score 0.3.

Genetic testing for NDUFS2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 9 common features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 6.

4 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 6. Research spans Basic Science / Preclinical (50%), Other (25%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

• Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]

• Mitchell DV (2025). [PMID: 40791373](https://pubmed.ncbi.nlm.nih.gov/40791373/). *bioRxiv*. [Basic Science / Preclinical]

• Klopstock T (2025). [PMID: 39963374](https://pubmed.ncbi.nlm.nih.gov/39963374/). *Med Genet*. [Gene Therapy / Novel Therapeutics]

• Meisel JD (2024). [PMID: 38810637](https://pubmed.ncbi.nlm.nih.gov/38810637/). *Curr Biol*. [Basic Science / Preclinical]