Disease on EC 2.5.1.141 - heme o synthase
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DISEASE 
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Acidosis, Renal Tubular
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Anemia
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.
Anemia, Sideroblastic
Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders: The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed.
Cardiomyopathies
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.
Cardiomyopathy, Hypertrophic
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.
Cardiomyopathy, Hypertrophic
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Coma
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Coronary Artery Disease
RNA-sequencing reveals that STRN, ZNF484 and WNK1 add to the value of mitochondrial MT-COI and COX10 as markers of unstable coronary artery disease.
Cytochrome-c Oxidase Deficiency
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Cytochrome-c Oxidase Deficiency
Bezafibrate improves mitochondrial function in the CNS of a mouse model of mitochondrial encephalopathy.
Cytochrome-c Oxidase Deficiency
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
Cytochrome-c Oxidase Deficiency
Defects in the biosynthesis of mitochondrial heme c and heme a in yeast and mammals.
Cytochrome-c Oxidase Deficiency
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.
Cytochrome-c Oxidase Deficiency
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.
Cytochrome-c Oxidase Deficiency
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Cytochrome-c Oxidase Deficiency
[A case with cytochrome C oxidase deficiency caused by COX10 gene variation].
Deafness
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.
Death, Sudden, Cardiac
A Novel COX10 Deletion Polymorphism as a Susceptibility Factor for Sudden Cardiac Death Risk in Chinese Populations.
Glomerulosclerosis, Focal Segmental
Deletion of the mitochondrial complex-IV co-factor heme A:farnesyltransferase causes focal segmental glomerulosclerosis and interferon response.
heme o synthase deficiency
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
Infections
Reliance on Cox10 and oxidative metabolism for antigen-specific NK cell expansion.
Leigh Disease
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.
Leigh Disease
Oligomerization of Heme o Synthase in Cytochrome Oxidase Biogenesis Is Mediated by Cytochrome Oxidase Assembly Factor Coa2.
Mitochondrial Diseases
Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders: The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed.
Mitochondrial Diseases
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
Mitochondrial Diseases
Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation.
Mitochondrial Diseases
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.
Mitochondrial Diseases
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Mitochondrial Myopathies
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.
Muscular Atrophy
Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity.
Muscular Diseases
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.
Nervous System Diseases
Oligomerization of Heme o Synthase in Cytochrome Oxidase Biogenesis Is Mediated by Cytochrome Oxidase Assembly Factor Coa2.
Neurodegenerative Diseases
A Targeted Mutation Disrupting Mitochondrial Complex IV Function in Primary Afferent Neurons Leads to Pain Hypersensitivity Through P2Y1 Receptor Activation.
Osteoporosis
Identification of B cells participated in the mechanism of postmenopausal women osteoporosis using microarray analysis.
Pulmonary Disease, Chronic Obstructive
Age-dependent assessment of genes involved in cellular senescence, telomere and mitochondrial pathways in human lung tissue of smokers, COPD and IPF: Associations with SARS-CoV-2 COVID-19 ACE2-TMPRSS2-Furin-DPP4 axis.
Pulmonary Disease, Chronic Obstructive
Age-Dependent Assessment of Genes Involved in Cellular Senescence, Telomere, and Mitochondrial Pathways in Human Lung Tissue of Smokers, COPD, and IPF: Associations With SARS-CoV-2 COVID-19 ACE2-TMPRSS2-Furin-DPP4 Axis.
Vascular System Injuries
RNA-sequencing reveals that STRN, ZNF484 and WNK1 add to the value of mitochondrial MT-COI and COX10 as markers of unstable coronary artery disease.
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