Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Mitochondrial COX2 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:



Schurr TG et al. (1990) Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages.

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Clark KM et al. (1999) An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

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Rahman S et al. (1999) A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

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Wong LJ et al. (2001) Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II.

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Campos Y et al. (2001) Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.

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Ballinger SW et al. (1992) Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations.

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Torroni A et al. (1992) Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations.

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Wallace DC et al. (1992) American Indian prehistory as written in the mitochondrial DNA: a review.

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Shields GF et al. (1992) Absence of the Asian-specific region V mitochondrial marker in Native Beringians.

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Harihara S et al. (1992) Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations.

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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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Wrischnik LA et al. (1987) Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA.

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Hertzberg M et al. (1989) An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians.

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Horai S et al. (1986) Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition.

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Cann RL et al. (1983) Length mutations in human mitochondrial DNA.

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Torroni A et al. (1993) Asian affinities and continental radiation of the four founding Native American mtDNAs.

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Torroni A et al. (1993) mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans.

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Passarino G et al. (1993) COII/tRNA(Lys) intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (southern Nepal) have Oriental affinities.

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Torroni A et al. (1994) Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude.

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Torroni A et al. (1994) mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico.

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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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None (1956) On the origin of cancer cells.

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

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

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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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Orphanet article

Orphanet ID 123516 external link

NCBI article

NCBI 4513 external link

OMIM.ORG article

Omim 516040 external link

Wikipedia article

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