Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Mitochondrial COX1 gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.


Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:



Hosler JP et al. (1993) Insight into the active-site structure and function of cytochrome oxidase by analysis of site-directed mutants of bacterial cytochrome aa3 and cytochrome bo.

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Greaves LC et al. (2006) Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

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Namslauer I et al. (2009) A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.

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None (1990) Structure and function of cytochrome c oxidase.

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Lomax MI et al. (1989) Tissue-specific genes for respiratory proteins.

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Hare JF et al. (1980) Isolation, subunit composition, and site of synthesis of human cytochrome c oxidase.

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Prochaska LJ et al. (1981) Inhibition of cytochrome c oxidase function by dicyclohexylcarbodiimide.

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Ching E et al. (1982) High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.

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Kadenbach B et al. (1983) Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure.

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Johns DR et al. (1993) Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

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None (1993) The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.

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Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

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None (1993) Current issues in the chemistry of cytochrome c oxidase.

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Rousseau DL et al. (1993) Proton translocation in cytochrome c oxidase: redox linkage through proximal ligand exchange on cytochrome a3.

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None (1993) Mitochondrial diseases: genotype versus phenotype.

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Davis RE et al. (1997) Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease.

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Gattermann N et al. (1997) Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.

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Parfait B et al. (1997) No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

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Hirano M et al. (1997) Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes.

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Wallace DC et al. (1997) Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations.

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Guan MX et al. (1998) The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

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Jaksch M et al. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

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Yuan H et al. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

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None (1956) On the origin of cancer cells.

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Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

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Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

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Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

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Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

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Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

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Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

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Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

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Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

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Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

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Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.

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Fan W et al. (2008) A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

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Temperley R et al. (2010) Hungry codons promote frameshifting in human mitochondrial ribosomes.

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Wisløff U et al. (2005) Cardiovascular risk factors emerge after artificial selection for low aerobic capacity.

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Bruno C et al. (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

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Pandya A et al. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

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Karadimas CL et al. (2000) Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

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Varlamov DA et al. (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

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Acín-Pérez R et al. (2003) An intragenic suppressor in the cytochrome c oxidase I gene of mouse mitochondrial DNA.

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Brown MD et al. (1992) A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.

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Lucioli S et al. (2006) Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

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Orphanet article

Orphanet ID 123512 external link

NCBI article

NCBI 4512 external link

OMIM.ORG article

Omim 516030 external link

Wikipedia article

Wikipedia EN (Cytochrome_c_oxidase_subunit_I) external link
Update: Aug. 14, 2020
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