Literature associating AFG3L2 and ophthalmoplegia
Paraplegin-like protein; ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU. Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity); In the N-terminal section; belongs to the AAA ATPase family.
Synonyms: AFG3L2, AFG3L2p, hAFG3L2, D3DUJ0, Q9Y4W6 ...