Anti-SPG7/PGN antibody

Target data

Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed : 11549317, PubMed : 28396416, PubMed : 31097542, PubMed : 9635427). SPG7 possesses both ATPase and protease activities : the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small peptide fragments (By similarity). The m-AAA protease exerts a dual role in the mitochondrial inner membrane : it mediates the processing of specific regulatory proteins and ensures protein quality control by degrading misfolded polypeptides (By similarity). Mediates protein maturation of the mitochondrial ribosomal subunit MRPL32/bL32m by catalyzing the cleavage of the presequence of MRPL32/bL32m prior to assembly into the mitochondrial ribosome (By similarity). Acts as a regulator of calcium in neurons by mediating 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 : 28396416, PubMed : 31097542). Also regulates mitochondrial calcium by catalyzing degradation of MCU (PubMed : 31097542). Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed : 26387735).