Features include always present findings: Loss of previously acquired skills (developmental regression); and common findings: Lethargy, Ataxia, Chorea, and Ophthalmoplegia. 8 total HPO annotations.

ATP5MK encodes ATP synthase membrane subunit k (58 aa). Subunit k, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). Highest expression in Heart Left Ventricle (237.8 TPM) and Brain Frontal Cortex BA9 (222.2 TPM).

Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 is associated with mutations in the ATP5MK gene on chromosome 10.

ATP5MK is classified as a druggable target with score 0.0.

Genetic testing for ATP5MK is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 4 common features.

No clinical trials have been registered for mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6.

4 publications have been identified in PubMed for mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6. Research spans Basic Science / Preclinical (75%) and Case Report / Case Series (25%).

Recent Publications

• Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]

• İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]

• Torregrosa-Muñumer R (2025). [PMID: 41381852](https://pubmed.ncbi.nlm.nih.gov/41381852/). *Commun Biol*. [Basic Science / Preclinical]

• Hock DH (2025). [PMID: 40400026](https://pubmed.ncbi.nlm.nih.gov/40400026/). *Genome Med*. [Basic Science / Preclinical]