Combined Oxidative Phosphorylation Deficiency 46 (COXPD46)

Combined Oxidative Phosphorylation Deficiency 46, is also known as coxpd46. An important gene associated with Combined Oxidative Phosphorylation Deficiency 46 is MRPS23 (Mitochondrial Ribosomal Protein S23). Affiliated tissues include liver, and related phenotypes are decreased activity of mitochondrial complex i and decreased liver function