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Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
Features include always present findings: Hypertonia, Dysplastic corpus callosum, Renal hypoplasia, and Aminoaciduria and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lab test results | 2 | Decreased activity of mitochondrial ATP synthase complex, Increased circulating lactate concentration |
Kidneys and urinary system | 1 | Renal hypoplasia |
Muscles | 1 | Flexion contracture |
Digestive system | 1 | Enlarged liver (hepatomegaly) |
Growth and development | 1 | Failure to thrive |
Head and neck | 1 | Microcephaly |
Brain and nerves | 1 | Severe global developmental delay |
Arms and legs | 1 | Rocker bottom foot |
ATPAF2 encodes ATP synthase mitochondrial F1 complex assembly factor 2 (289 aa). Plays a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase) Highest expression in Testis (23.6 TPM) and Thyroid (11.8 TPM).
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 is associated with mutations in the ATPAF2 gene on chromosome 17.
ATPAF2 is classified as a druggable target (Enzyme category) with score 0.0.
Genetic testing for ATPAF2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 22 always present features.
No clinical trials have been registered for mitochondrial complex V (ATP synthase) deficiency, nuclear type 1.
5 publications have been identified in PubMed for mitochondrial complex V (ATP synthase) deficiency, nuclear type 1. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).
Al Masseri Z (2026). [PMID: 40913360](https://pubmed.ncbi.nlm.nih.gov/40913360/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Xian C (2025). [PMID: 41053757](https://pubmed.ncbi.nlm.nih.gov/41053757/). *Journal of translational medicine*. [Basic Science / Preclinical]
Fielder SM (2025). [PMID: 40672495](https://pubmed.ncbi.nlm.nih.gov/40672495/). *medRxiv : the preprint server for health sciences*. [Case Report / Case Series]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Frontiers in neurology*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
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