Mitochondrial ND3 gene
The mitochondrial gene MT-ND3 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 3 of the respiratory complex I. The gene is encoded by nucleotides 10059-10404. Mutations cause mitochondrial complex I deficiency. Also an association with Parkinson disease is discussed. 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. |
Yatscoff RW et al. (1978) Conservation of genes coding for proteins synthesized in human mitochondria.
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3. |
Oliver NA et al. (1983) Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.
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4. |
Spinner NB et al. (1986) Polymorphisms of mitochondrially encoded proteins.
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5. |
None (1986) Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance.
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6. |
Wang K et al. (2009) Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
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7. |
Chae JH et al. (2007) A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.
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8. |
Sarzi E et al. (2007) A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
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9. |
Bhat A et al. (2007) The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study.
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10. |
Pyle A et al. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.
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11. |
Kirby DM et al. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
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12. |
McFarland R et al. (2004) De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
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13. |
van der Walt JM et al. (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
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14. |
Taylor RW et al. (2001) Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
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15. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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16. |
Herrnstadt C et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.
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17. |
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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18. |
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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19. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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20. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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21. |
Chomyn A et al. (1983) Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA.
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22. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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23. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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24. |
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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25. |
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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26. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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27. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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28. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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29. |
NCBI article
NCBI 4537
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30. |
OMIM.ORG article
Omim 516002
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31. |
Orphanet article
Orphanet ID 123547
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32. |
Wikipedia article
Wikipedia EN (MT-ND3)
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Update: Aug. 14, 2020