Abcam, ab96195, Anti-MMACHC/CblC antibody

Size: 50µL
Rabbit Polyclonal MMACHC/CblC antibody. Suitable for WB, ICC/IF, IHC-P and reacts with Mouse, Rat, Human samples. Cited in 2 publications. Immunogen corresponding to Recombinant Fragment Protein within Human MMACHC aa 1-200.
Key facts
Host species:Rabbit,
Clonality:Polyclonal,
Isotype:IgG,
Carrier free:No,
Reacts with:Mouse, Rat, Human,
Applications:WB, IHC-P, ICC/IFSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Immunogen:Recombinant Fragment Protein within Human MMACHC aa 1-200. The exact immunogen used to generate this antibody is proprietary information.Q9Y4U1

Properties and Storage Information:
Form-Liquid, Purification technique-Affinity purification Immunogen, Storage buffer-pH: 7Preservative: 0.01% Thimerosal (merthiolate)Constituents: 10% Glycerol (glycerin, glycerine), 1.21% Tris, 0.75% Glycine, Shipped at conditions-Blue Ice, Appropriate short-term storage conditions-+4°C, Appropriate long-term storage conditions--20°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
MMACHC also known as CblC is a protein involved in cobalamin (vitamin B12) metabolism. It acts as an intermediary in the processing of cobalamin facilitating its conversion into active derivatives needed for cellular reactions. MMACHC shows a molecular mass of around 31 kDa. This protein is mainly expressed in the cytosol of various tissues with high expression levels in the liver and brain. Proper functioning of MMACHC plays an important role in maintaining cellular metabolism and enzymatic reactions.
Biological function summary
MMACHC enables the conversion of cobalamin to its cofactor forms methylcobalamin and adenosylcobalamin. These forms are vital for key enzymatic reactions specifically in the methionine and methylmalonyl-CoA pathways. MMACHC functions as part of a larger cobalamin metabolic complex that also involves other critical enzymes and cofactors. This protein ensures proper activation of vitamin B12 essential for DNA synthesis and fatty acid metabolism.
Pathways
MMACHC is integral to both the methionine and methylmalonyl-CoA metabolic pathways. It interacts with methylmalonic acidemia proteins such as MUT and methionine synthase which are important for amino acid metabolism and red blood cell formation. These interactions coordinate the proper utilization of cobalamin influencing homocysteine levels and preventing its accumulation in the body which is significant for nerve function and cardiovascular health.
MMACHC mutations result in methylmalonic acidemia with homocystinuria a severe metabolic disorder. This condition highlights the malfunctioning of cobalamin metabolism leading to toxic accumulation of metabolites. MMACHC is also linked to certain neurodegenerative conditions due to its role in neuron health via proper vitamin B12 utilization. Researchers continue to study its complex interactions with other proteins including those in the transcobalamin complex to better understand how defects in its activity lead to disease manifestations.