|Other Names||Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMADHC, C2orf25, CL25022|
|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 cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).|
|Cellular Location||Cytoplasm. Mitochondrion|
|Tissue Location||Widely expressed at high levels.|
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This gene encodes a mitochondrial protein that is involvedin an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin)is essential for normal development and survival in humans.Mutations in this gene cause methylmalonic aciduria andhomocystinuria type cblD (MMADHC), a disorder of cobalaminmetabolism that is characterized by decreased levels of thecoenzymes adenosylcobalamin and methylcobalamin. Pseudogenes havebeen identified on chromosomes 11 and X.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Coelho, D., et al. N. Engl. J. Med. 358(14):1454-1464(2008)
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