Protein PET117 homolog, mitochondrial (PET117)

Protein PET117 homolog, mitochondrial (PET117) is a small, highly conserved mitochondrial chaperone and assembly factor essential for the biogenesis of cytochrome c oxidase (Complex IV) in the mitochondrial respiratory chain[3][4][7]. PET117 works in concert with other chaperones such as PET100 and MR-1S to ensure the proper assembly and integration of both nuclear and mitochondrial-encoded subunits into a fully functional complex[3][4]. Loss-of-function mutations in PET117 can lead to isolated complex IV deficiency, resulting in mitochondrial disorders with neurological and systemic manifestations including neurodevelopmental regression, medulla oblongata lesions, and lactic acidosis[3][4]. Recent research has shown that PET117 also regulates the mitochondrial translation activator TACO1, stabilizing it and thereby supporting COX1 (complex IV subunit) synthesis and overall mitochondrial function[1]. PET117 itself, however, is not currently a recognized direct therapeutic target or receptor[7][4].

Other names

PET117 cytochrome c oxidase chaperonePET117CSRP2BPMC4DN19PET117 homologUNQ607/PRO1194