ATPAF1

Chr 1

ATP synthase mitochondrial F1 complex assembly factor 1

NCBI Gene: 64756 ENSG00000123472 UniProt: Q5TC12 OMIM: 608917

The protein is an assembly factor for the F1 component of mitochondrial ATP synthase, binding specifically to the F1 beta subunit to prevent nonproductive homooligomer formation during enzyme assembly. Mutations cause autosomal recessive mitochondrial complex V deficiency, resulting in early-onset neurological dysfunction affecting the brain and other energy-demanding tissues. The gene shows tolerance to loss-of-function variants (low pLI score), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Has a complex stabilizing activity in the assembly of the mitochondrial F1-F0 complex

OMIM ResearchGenerating clinical summary…

LOEUF 0.72

Clinical Summary— ATPAF1

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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