|Other Names||Paraplegin, 3424-, Spastic paraplegia 7 protein, SPG7, CAR, CMAR, PGN|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||ATP-dependent zinc metalloprotease. 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).|
|Cellular Location||Mitochondrion inner membrane; Multi-pass membrane protein|
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This gene encodes a nuclear-encoded mitochondrialmetalloprotease protein that is a member of the AAA (ATPasesassociated with a variety of cellular activities) protein family.Members of this protein family share an ATPase domain and haveroles in diverse cellular processes including membrane trafficking,intracellular motility, organelle biogenesis, protein folding, andproteolysis. Two transcript variants encoding distinct isoformshave been identified for this gene. Mutations associated with thisgene cause autosomal recessive spastic paraplegia 7. [provided byRefSeq].
Warnecke, T., et al. Mov. Disord. 25(4):413-420(2010)Augustin, S., et al. Mol. Cell 35(5):574-585(2009)Karlberg, T., et al. PLoS ONE 4 (10), E6975 (2009) :Brugman, F., et al. Neurology 71(19):1500-1505(2008)Tzoulis, C., et al. J. Neurol. 255(8):1142-1144(2008)
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