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).

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B 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.

Phenotype severity distribution: 9 always present features.

No clinical trials have been registered for mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B.

5 publications have been identified in PubMed for mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B. Research spans Basic Science / Preclinical (80%) and Case Report / Case Series (20%).

Recent Publications

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

• Xian C (2025). [PMID: 41053757](https://pubmed.ncbi.nlm.nih.gov/41053757/). *J Transl Med*. [Basic Science / Preclinical]

• Fielder SM (2025). [PMID: 40672495](https://pubmed.ncbi.nlm.nih.gov/40672495/). *medRxiv*. [Basic Science / Preclinical]

• Fielder SM (2025). [PMID: 40859057](https://pubmed.ncbi.nlm.nih.gov/40859057/). *EMBO Mol Med*. [Basic Science / Preclinical]

• Crameri JJ (2024). [PMID: 38828998](https://pubmed.ncbi.nlm.nih.gov/38828998/). *Mol Cell Biol*. [Case Report / Case Series]