|Other Names||Methylmalonic aciduria type A protein, mitochondrial, 36--, MMAA|
|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.|
|Function||Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis.|
|Tissue Location||Widely expressed. Highest expression is observed in liver and skeletal muscle|
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Provided below are standard protocols that you may find useful for product applications.
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.
Honjo, R.S., et al. Genet Test Mol Biomarkers 13(2):181-183(2009)Merinero, B., et al. J. Inherit. Metab. Dis. 31(1):55-66(2008)Horster, F., et al. Pediatr. Res. 62(2):225-230(2007)Padovani, D., et al. J. Biol. Chem. 281(26):17838-17844(2006)Lerner-Ellis, J.P., et al. Hum. Mutat. 24(6):509-516(2004)
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