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.

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

None (1993) Mitochondrial diseases: genotype versus phenotype.

external link

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

external link

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.

external link

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

external link

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.

external link

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

external link

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.

external link

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.

external link

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.

external link

None (1956) On the origin of cancer cells.

external link

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.

external link

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

external link

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

external link

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

external link

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.

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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.

external link

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.

external link

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

external link

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

external link

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

external link

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.

external link

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

external link

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
Copyright © 2005-2022 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits