|Application ||WB, E|
|Other Accession||Q6AYQ6, Q99LS1, NP_056517.1|
|Calculated MW||32940 Da|
|Antigen Region||226-253 aa|
|Other Names||Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMADHC, C2orf25, CL25022|
|Target/Specificity||This MMADHC antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 226-253 amino acids from the C-terminal region of human MMADHC.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||MMADHC Antibody (C-term) is for research use only and 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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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a mitochondrial protein that is involved in 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 and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been 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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