Mitochondrial protein C2orf69 (C2orf69)

Mitochondrial protein C2orf69 is a highly conserved human mitochondrial protein containing an N-terminal signal peptide that directs its localization to the mitochondrial matrix, where it exerts an essential role in mitochondrial oxidative phosphorylation and broader metabolic regulation[2][3][4][5]. Loss-of-function mutations in the C2orf69 gene lead to impaired respiratory chain function (notably affecting OXPHOS complexes I, II, and V), increased reactive oxygen species (ROS), and changes in immunological pathways. Clinically, these mutations cause a multisystem disorder characterized by brain abnormalities—including hypomyelination, microcephaly, progressive leukoencephalopathy—liver dysfunction, recurrent seizures, and autoinflammation[3][4][5]. Defective C2orf69 also impairs glycogen branching enzyme (GBE1) activity, leading to altered glycogen metabolism and periodic acid–Schiff–positive tissue deposits[1][5]. There are currently no known drugs that target C2orf69, nor is it established as a direct therapeutic target, but its disruption defines a novel mitochondrial disease syndrome[2][3][4][5].

Other names

Chromosome 2 open reading frame 69FLJ38973Hypothetical protein FLJ38973COXPD53UPF0565 protein C2orf69