ATP synthase A chain (ATP synthase 6, protein-6, F0 a element, coupling factor 0-a, MT-ATP6, ATP6, ATPASE6, MTATP)

Function

• component of mitochondrial F0 complex (proton channel)

Structure

belongs to the ATPase A chain family

Compartment

mitochondrial inner membrane

Pathology

• defects in MT-ATP6 are the cause of
  • neurogenic muscle weakness, ataxia, & retinitis pigmentosa (NARP)
  • Leber hereditary optic neuropathy
  • Leigh syndrome
  • infantile bilateral striatal necrosis

Laboratory

• MT-ATP6 gene mutation

More general terms

• protein subunit
• mitochondrial protein

Component of

• coupling factor 0 (F0, CF0)

Database

• UniProt: http://www.uniprot.org/uniprot/P00846.html
• OMIM: https://mirror.omim.org/entry/256000
• OMIM: https://mirror.omim.org/entry/500003
• OMIM: https://mirror.omim.org/entry/516060
• OMIM: https://mirror.omim.org/entry/535000
• OMIM: https://mirror.omim.org/entry/551500