Anti-AFG3L2

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008], Protein function: 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 (PubMed:27642048). Required for paraplegin (SPG7) maturation (PubMed:30252181). After its cleavage by mitochondrial-processing peptidase (MPP), it converts paraplegin into a proteolytically active mature form. Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP) (PubMed:22354088, PubMed:30252181). Involved in the regulation of OMA1-dependent processing of OPA1 (PubMed:32600459, PubMed:30252181). Contributes to the proteolytic degradation of GHITM upon hyperpolarization of mitochondria (PubMed:35912435). Progressive GHITM degradation upon persistent hyperpolarization leads to respiratory complex I degradation and broad reshaping of the mitochondrial proteome by AFG3L2 (PubMed:35912435). [The UniProt Consortium] Recommended dilutions: WB 1:500-2000, ELISA 1:10000-20000. Cellular localization: Mitochondrion . Mitochondrion inner membrane , Multi-pass membrane protein .