|Other Names||Phosphomannomutase 2, PMM 2, PMM2|
|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.|
|Function||Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.|
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Provided below are standard protocols that you may find useful for product applications.
The protein encoded by this gene catalyzes theisomerization of mannose 6-phosphate to mannose 1-phosphate, whichis a precursor to GDP-mannose necessary for the synthesis ofdolichol-P-oligosaccharides. Mutations in this gene have been shownto cause defects in glycoprotein biosynthesis, which manifests ascarbohydrate-deficient glycoprotein syndrome type I. [provided byRefSeq].
Vega, A.I., et al. Hum. Mutat. 30(5):795-803(2009)Coman, D., et al. Am. J. Med. Genet. A 146(3):389-392(2008)Vermeer, S., et al. J. Neurol. 254(10):1356-1358(2007)Coman, D., et al. J Clin Neurosci 14(7):668-672(2007)Schollen, E., et al. Mol. Genet. Metab. 90(4):408-413(2007)
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