|Other Names||DNA polymerase subunit gamma-1, Mitochondrial DNA polymerase catalytic subunit, PolG-alpha, POLG, MDP1, POLG1, POLGA|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||MDP1, POLG1, POLGA|
|Function||Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.|
|Cellular Location||Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid|
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Mitochondrial DNA polymerase is heterotrimeric, consistingof a homodimer of accessory subunits plus a catalytic subunit. Theprotein encoded by this gene is the catalytic subunit ofmitochondrial DNA polymerase. The encoded protein contains apolyglutamine tract near its N-terminus that may be polymorphic.Defects in this gene are a cause of progressive externalophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensoryataxic neuropathy dysarthria and ophthalmoparesis (SANDO),Alpers-Huttenlocher syndrome (AHS), and mitochondrialneurogastrointestinal encephalopathy syndrome (MNGIE). Twotranscript variants encoding the same protein have been found forthis gene.
Tong, Z.B., et al. Fertil. Steril. 94(7):2932-2934(2010)Stewart, J.D., et al. Hepatology 52(5):1791-1796(2010)Batabyal, D., et al. J. Biol. Chem. 285(44):34191-34201(2010)Wang, W., et al. Nucleic Acids Res. (2010) In press :Briggs, F.B., et al. Am. J. Epidemiol. 172(2):217-224(2010)
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