Features include always present findings: Microcephaly, Decreased activity of mitochondrial complex III, Low muscle tone (hypotonia), and Decreased activity of mitochondrial complex I and others; and common findings: Encephalopathy, Seizure, High blood pressure in lung arteries (pulmonary arterial hypertension), and Failure to thrive and others.

ATP5F1A encodes ATP synthase F1 subunit alpha (553 aa). Subunit alpha, 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 (327.3 TPM) and Muscle Skeletal (263.9 TPM).

Combined oxidative phosphorylation deficiency 22 is associated with mutations in the ATP5F1A gene on chromosome 18.

The ATP5F1A protein participates in AFG3L2 degrades mitochondrial matrix proteins pathway.

ATP5F1A is classified as a druggable target (Cell Surface and Transporter categories) with score 1.3.

Genetic testing for ATP5F1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined oxidative phosphorylation deficiency 22 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 6 common features.

No clinical trials have been registered for combined oxidative phosphorylation deficiency 22.

68 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 22. Research spans Basic Science / Preclinical (57%), Review / Meta-Analysis (12%), and Gene Therapy / Novel Therapeutics (12%).