Mitochondrial COX1 gene
The mitochondrial gene MT-CO1 It is subunit 3 of the cytochome c oxidase, belonging to respiratory complex IV. The gene is encoded by nucleotides 5904-7444. Diseases caused by mutations include Leber hereditary optic neuropathy, sideroblastic anemia, cytochrome c oxydase deficiency, colorectal cancer, and 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:
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39. |
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40. |
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41. |
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42. |
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43. |
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44. |
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45. |
Orphanet article
Orphanet ID 123512
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46. |
NCBI article
NCBI 4512
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47. |
OMIM.ORG article
Omim 516030
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48. |
Wikipedia article
Wikipedia EN (Cytochrome_c_oxidase_subunit_I)
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Update: Aug. 14, 2020