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Proc Am Soc Clin Oncol 16:437a, 1997

Nabha, S

This enzyme selectively recognizes an octapeptide sequence (Leu-Glu-Val-Leu-Phe-Gln-Gly-Pro) and catalyzes peptide bond cleavage specifically between the glutamine (Gln) and glycine (Gly) residues

A patient with an ATP5PO mutation encoding OSCP recently died from refractory status epilepticus, and a separate case involving a TMEM70 mutation also presented with status epilepticus (119)