AFG3-like protein 2

Definition:

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 paraplegin (SPG7) maturation. After its cleavage by mitochondrial-processing peptidase (MPP), it converts paraplegin into a proteolytically active mature form (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP). Involved in the regulation of OMA1-dependent processing of OPA1.

References:

[1]. Tim König, et al. The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. Mol Cell. 2016 Oct 6;64(1):148-162. [Content Brief]

[2]. Andrew W Greene, et al. Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment. EMBO Rep. 2012 Apr;13(4):378-85. [Content Brief]

[3]. Valentina Baderna, et al. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy. Acta Neuropathol Commun. 2020 Jun 29;8(1):93. [Content Brief]

[4]. Stefania Magri, et al. Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. Hum Mutat. 2018 Dec;39(12):2060-2071. [Content Brief]

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