Condition: Cytochrome-c Oxidase Deficiency


rs199474827 in ATP8;COX3;ATP6;COX1;COX2 gene and Cytochrome-c Oxidase Deficiency PMID 10486321 1999 A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

rs104894555 in COX10 gene and Cytochrome-c Oxidase Deficiency PMID 10767350 2000 A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 12928484 2003 Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

rs267606883 in COX2;COX1 gene and Cytochrome-c Oxidase Deficiency PMID 16284789 2006 Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

PMID 12140182 2002 Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

rs121909602 in COX6B1 gene and Cytochrome-c Oxidase Deficiency PMID 18499082 2008 Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

rs587777004 in HNRNPU;COX20 gene and Cytochrome-c Oxidase Deficiency PMID 24202787 2014 Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

PMID 23125284 2013 A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

PMID 29154948 2018 The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.

rs587779779 in PCP2;PET100;XAB2 gene and Cytochrome-c Oxidase Deficiency PMID 25293719 2015 A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

rs104894630 in SCO1 gene and Cytochrome-c Oxidase Deficiency PMID 17189203 2007 The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

PMID 17182746 2007 Human Sco1 functional studies and pathological implications of the P174L mutant.

PMID 19336478 2009 Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

PMID 11013136 2000 Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

rs587776513 in TACO1 gene and Cytochrome-c Oxidase Deficiency PMID 19503089 2009 Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.