ATP synthase mitochondrial F1 complex assembly factor 2; ATP12 homolog (ATPAF2, ATP12, LP3663)

Function

• assembly of mitochondrial F1 ATPase (putative)
• interacts with ATP5A1

Structure

belongs to the ATP12 family

Compartment

mitochondria

Expression

widely expressed

Pathology

• defects in ATPAF2 are a cause of ATP synthase deficiency (ATPAF2 deficiency)

More general terms

• mitochondrial protein

Additional terms

• ATPase synthase deficiency; ATPase deficiency; ATPAF2 deficiency

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=91647
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:91647
• OMIM: https://mirror.omim.org/entry/604273
• OMIM: https://mirror.omim.org/entry/608918
• UniProt: http://www.uniprot.org/uniprot/Q8N5M1.html