Literature associating MT-CO1 and nemaline myopathy 3
Mitochondrially encoded cytochrome c oxidase I; Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B.
Synonyms: MT-CO1, COX1, A0S1I7, A1XP63, A5YMT3 ...