Mitochondrial CYTB gene
The mitochondrial gene MT-CYB encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is the cytochome b oxidase, belonging to respiratory complex III. The gene is encoded by nucleotides 14747-15887. Diseases caused by mutations include Leber hereditary optic neuropathy, mitochondrial complex III deficiency, exercise intolerance, obesity, Parkinson disease, cardiomyopathy, colorectal cancer, epilepsy, sensorineural deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, and encephalopathy. 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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41. |
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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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53. |
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54. |
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55. |
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56. |
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Orphanet ID 123524
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Update: Aug. 14, 2020