Mitochondrial ND4L gene
The mitochondrial gene MT-ND4L ncodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 4L of the respiratory complex I. The gene is encoded by nucleotides 10470-10766. Diseases caused by mutations include Leber hereditary optic neuropathy 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. |
Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex?
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2. |
Brown MD et al. (2002) The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.
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3. |
Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.
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4. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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5. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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6. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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7. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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8. |
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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9. |
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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10. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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11. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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12. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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13. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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14. |
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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15. |
Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.
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16. |
None (1956) On the origin of cancer cells.
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17. |
NCBI article
NCBI 4539
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18. |
OMIM.ORG article
Omim 516004
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19. |
Orphanet article
Orphanet ID 123557
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20. |
Wikipedia article
Wikipedia EN (MT-ND4L)
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Update: Aug. 14, 2020