Mitochondrial ND4 gene
The mitochondrial gene MT-ND4 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 4 of the respiratory complex I. The gene is encoded by nucleotides 10760-12137. Diseases caused by mutations include MELAS syndrome, Wolfram syndrome, Leber hereditary optic neuropathy, dystonia, and mitochondrial complex I deficiency. 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. |
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2. |
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15. |
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19. |
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20. |
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21. |
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27. |
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28. |
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30. |
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31. |
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32. |
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33. |
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34. |
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35. |
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36. |
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37. |
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38. |
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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. |
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46. |
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47. |
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48. |
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49. |
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50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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56. |
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57. |
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58. |
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59. |
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60. |
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61. |
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62. |
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63. |
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64. |
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65. |
Mimaki M et al. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.
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66. |
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67. |
Chinnery PF et al. (2001) Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
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68. |
Danks RA et al. (1988) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema.
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69. |
Lertrit P et al. (1992) A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.
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70. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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71. |
NCBI article
NCBI 4538
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72. |
OMIM.ORG article
Omim 516003
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73. |
Orphanet article
Orphanet ID 123552
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74. |
Wikipedia article
Wikipedia EN (MT-ND4)
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Update: Aug. 14, 2020