Disease-gene associations mined from literature

Literature associating MT-CO1 and retinitis pigmentosa 40

MT-CO1 [ENSP00000354499]

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 ...

Linkouts:  STRING  Pharos  UniProt