Mitochondrial COX3 gene
The mitochondrial gene MT-CO3 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 3 of the cytochome c oxydase, belonging to respiratory complex IV. The gene is encoded by nucleotides 9207-9990. Diseases caused by mutations include Leber hereditary optic neuropathy, seizures, cytochrome c oxydase deficiency, lactic acidosis, and recurrent myoglobinuria. 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. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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2. |
Hanna MG et al. (1998) Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.
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3. |
Seneca S et al. (1996) A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.
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4. |
Keightley JA et al. (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.
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5. |
Oostra RJ et al. (1995) Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.
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6. |
Suzuki H et al. (1988) Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III.
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7. |
Temperley RJ et al. (2003) Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.
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8. |
Horváth R et al. (2002) Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.
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9. |
Tiranti V et al. (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.
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10. |
Rousseau DL et al. (1993) Proton translocation in cytochrome c oxidase: redox linkage through proximal ligand exchange on cytochrome a3.
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11. |
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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12. |
None (1993) The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.
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13. |
Johns DR et al. (1993) Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.
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14. |
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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15. |
Prochaska LJ et al. (1981) Inhibition of cytochrome c oxidase function by dicyclohexylcarbodiimide.
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16. |
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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17. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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18. |
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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19. |
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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20. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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21. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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22. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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23. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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24. |
None (1990) Structure and function of cytochrome c oxidase.
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25. |
Lomax MI et al. (1989) Tissue-specific genes for respiratory proteins.
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26. |
Hare JF et al. (1980) Isolation, subunit composition, and site of synthesis of human cytochrome c oxidase.
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27. |
Ching E et al. (1982) High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.
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28. |
Orphanet article
Orphanet ID 123520
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29. |
NCBI article
NCBI 4514
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30. |
OMIM.ORG article
Omim 516050
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31. |
Wikipedia article
Wikipedia EN (Cytochrome_c_oxidase_subunit_III)
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Update: Aug. 14, 2020