YOR330C
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| Systematic name | YOR330C |
| Gene name | MIP1 |
| Aliases | |
| Feature type | ORF, Verified |
| Coordinates | Chr XV:943385..939621 |
| Primary SGDID | S000005857 |
Description of YOR330C: Catalytic subunit of the mitochondrial DNA polymerase; conserved C-terminal segment is required for the maintenance of mitochondrial genome; mutations in the human ortholog POLG are associated with Alpers-Huttenlocher syndrome (AHS) and other mitochondrial diseases[1][2][3][4][5]
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References
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- ↑ Baruffini E, et al. (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11(1):182-90 SGD PMID 20883824
- ↑ Foury F (1989) Cloning and sequencing of the nuclear gene MIP1 encoding the catalytic subunit of the yeast mitochondrial DNA polymerase. J Biol Chem 264(34):20552-60 SGD PMID 2684980
- ↑ Stewart JD, et al. (2010) Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 52(5):1791-6 SGD PMID 21038416
- ↑ Stuart GR, et al. (2006) Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum Mol Genet 15(2):363-74 SGD PMID 16368709
- ↑ Young MJ, et al. (2006) The carboxyl-terminal extension on fungal mitochondrial DNA polymerases: identification of a critical region of the enzyme from Saccharomyces cerevisiae. Yeast 23(2):101-16 SGD PMID 16491467
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