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Article

ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.

Journal of translational medicine - 6 Oct 2025

Xian Chunyan, Luo Qing, Li Weiping, Zou Lin, Liu Jinbo

Abstract excerpt

BACKGROUND: The ATP synthase F1 subunit α (ATP5F1A) gene encodes a critical structural subunit of mitochondrial complex V. ATP5F1A mutations are linked to mitochondrial complex V deficiency diseases. Although only 14 cases have been reported globally, the genotype-phenotype correlations and underlying molecular mechanisms remain poorly understood. OBJECTIVE: To investigate the pathogenic mechanisms of ATP5F1A...

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Identifiers

PMID: 41053757
DOI: 10.1186/s12967-025-07032-x
PMCID: PMC12502130

Genes

ATP5F1A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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