ATP synthase mitochondrial F1 complex assembly factor 2

Summary
Gene Symbol
  • ATPAF2
Organism
Homo sapiens (human)
NCBI Gene
91647
PubChem
91647
Alliance of Genome Resources
JoGo
ATPAF2
TogoVar
ATPAF2
Annotation
Keyword
  • Chaperone
  • Disease variant
  • Mitochondrion inner membrane
  • Primary mitochondrial disease
  • Proteomics identification
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
Q8N5M1
  • ATP12 homolog
Gene Ontology (GO)
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026