Mitochondrial COX2 gene
The mitochondrial gene MT-CO2 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 2 of the cytochome c oxidase, belonging to respiratory complex IV. The gene is encoded by nucleotides 7586-8294. Diseases caused by mutations include cytochrome c oxydase deficiency and colorectal cancer. The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
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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2. |
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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3. |
Rahman S et al. (1999) A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
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4. |
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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5. |
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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6. |
Ballinger SW et al. (1992) Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations.
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7. |
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8. |
Wallace DC et al. (1992) American Indian prehistory as written in the mitochondrial DNA: a review.
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9. |
Shields GF et al. (1992) Absence of the Asian-specific region V mitochondrial marker in Native Beringians.
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10. |
Harihara S et al. (1992) Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations.
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11. |
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12. |
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13. |
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14. |
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15. |
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16. |
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17. |
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18. |
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19. |
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20. |
Torroni A et al. (1994) mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico.
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21. |
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22. |
None (1956) On the origin of cancer cells.
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23. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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24. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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25. |
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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26. |
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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27. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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28. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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29. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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30. |
Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.
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31. |
None (1990) Structure and function of cytochrome c oxidase.
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32. |
Lomax MI et al. (1989) Tissue-specific genes for respiratory proteins.
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33. |
Hare JF et al. (1980) Isolation, subunit composition, and site of synthesis of human cytochrome c oxidase.
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34. |
Ching E et al. (1982) High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.
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35. |
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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36. |
None (1993) The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.
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37. |
Davis RE et al. (1997) Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease.
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38. |
Parfait B et al. (1997) No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
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39. |
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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40. |
Orphanet article
Orphanet ID 123516
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41. |
NCBI article
NCBI 4513
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42. |
OMIM.ORG article
Omim 516040
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43. |
Wikipedia article
Wikipedia EN (Cytochrome_c_oxidase_subunit_II)
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Update: Aug. 14, 2020