Rabbit Polyclonal MMACHC/CblC antibody. Suitable for WB, ICC/IF and reacts with Human samples. Cited in 2 publications. Immunogen corresponding to Recombinant Fragment Protein within Human MMACHC aa 1-200.
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Publications
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- American journal of human genetics 93:506-142013An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.Applications:Unspecified applicationReactive species:Unspecified reactive speciesHung-Chun Yu,Jennifer L Sloan,Gunter Scharer,Alison Brebner,Anita M Quintana,Nathan P Achilly,Irini Manoli,Curtis R Coughlin,Elizabeth A Geiger,Una Schneck,David Watkins,Terttu Suormala,Johan L K Van Hove,Brian Fowler,Matthias R Baumgartner,David S Rosenblatt,Charles P Venditti,Tamim H ShaikhPubMed 24011988
- Human molecular genetics 22:4591-6012013Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.Applications:Unspecified applicationReactive species:Unspecified reactive speciesMa'atem B Fofou-Caillierez et. al.PubMed 23825108
Key facts
- Isotype
- IgG
- Host species
- Rabbit
- Storage buffer
pH: 7
Preservative: 0.01% Thimerosal (merthiolate)
Constituents: 10% Glycerol (glycerin, glycerine), 1.21% Tris, 0.75% Glycine- Form
- Liquid
- Clonality
- Polyclonal
Immunogen
- Recombinant Fragment Protein within Human MMACHC aa 1-200. The exact immunogen used to generate this antibody is proprietary information. Database link Q9Y4U1
Reactivity data
Select an application| WB | ICC/IF | |
|---|---|---|
| Human | Tested | Tested |
| Cow | Predicted | Predicted |
WB
TestedTested
| Species | Dilution info | Notes |
|---|---|---|
Species Human | Dilution info 1/500.00000 - 1/3000.00000 | Notes - |
PredictedPredicted
| Species | Dilution info | Notes |
|---|---|---|
Species Cow | Dilution info - | Notes - |
ICC/IF
TestedTested
| Species | Dilution info | Notes |
|---|---|---|
Species Human | Dilution info 1/100.00000 - 1/200.00000 | Notes - |
PredictedPredicted
| Species | Dilution info | Notes |
|---|---|---|
Species Cow | Dilution info - | Notes - |
Associated Products
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1 product for Alternative Product
Target data
Function
Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate (PubMed:18779575, PubMed:19700356, PubMed:21697092, PubMed:25809485). Cyanocobalamin constitutes the inactive form of vitamin B12 introduced from the diet, and is converted into the active cofactors methylcobalamin (MeCbl) involved in methionine biosynthesis, and 5'-deoxyadenosylcobalamin (AdoCbl) involved in the TCA cycle (PubMed:19801555). Forms a complex with the lysosomal transporter ABCD4 and its chaperone LMBRD1, to transport cobalamin across the lysosomal membrane into the cytosol (PubMed:25535791). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:21071249, PubMed:27771510). Also acts as a glutathione transferase by catalyzing the dealkylation of the alkylcob(III)alamins MeCbl and AdoCbl, using the thiolate of glutathione for nucleophilic displacement to generate cob(I)alamin and the corresponding glutathione thioether (PubMed:19801555, PubMed:21697092, PubMed:22642810, PubMed:25809485). The conversion of incoming MeCbl or AdoCbl into a common intermediate cob(I)alamin is necessary to meet the cellular needs for both cofactors (PubMed:19801555). Cysteine and homocysteine cannot substitute for glutathione in this reaction (PubMed:19801555).
Alternative names
Cyanocobalamin reductase / alkylcobalamin dealkylase, Alkylcobalamin:glutathione S-alkyltransferase, CblC, Cyanocobalamin reductase (cyanide-eliminating), Methylmalonic aciduria and homocystinuria type C protein, MMACHC
Recommended products
Rabbit Polyclonal MMACHC/CblC antibody. Suitable for WB, ICC/IF and reacts with Human samples. Cited in 2 publications. Immunogen corresponding to Recombinant Fragment Protein within Human MMACHC aa 1-200.
Key facts
- Isotype
- IgG
- Host species
- Rabbit
- Storage buffer
pH: 7
Preservative: 0.01% Thimerosal (merthiolate)
Constituents: 10% Glycerol (glycerin, glycerine), 1.21% Tris, 0.75% Glycine- Form
- Liquid
- Clonality
- Polyclonal
- Immunogen
- Recombinant Fragment Protein within Human MMACHC aa 1-200. The exact immunogen used to generate this antibody is proprietary information. Database link Q9Y4U1
- Purification technique
- Affinity purification Immunogen
- Concentration
Storage
- 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 info
- This supplementary information is collated from multiple sources and compiled automatically.
- Activity summary
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.
- Associated diseases and disorders
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.
Product promise
Tested
We have tested this species and application combination and it works. It is covered by our product promise.
Expected
We have not tested this specific species and application combination in-house, but expect it will work. It is covered by our product promise.
Predicted
This species and application combination has not been tested, but we predict it will work based on strong homology. However, this combination is not covered by our product promise.
Not recommended
We do not recommend this combination. It is not covered by our product promise.
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2 product images
Western blot - Anti-MMACHC/CblC antibody (ab96195)
12% SDS-PAGE
All lanes: Western blot - Anti-MMACHC/CblC antibody (ab96195) at 1/1000 dilution
Lane 1: 293T whole cell lysate at 30 µg
Lane 2: Raji whole cell lysate at 30 µg
Predicted band size: 32 kDa
Immunocytochemistry/ Immunofluorescence - Anti-MMACHC/CblC antibody (ab96195)
ab96195, at 1/100 dilution, staining MMACHC/CblC in paraformaldehyde-fixed HeLa cells by Immunofluorescence. Lower image is merged with DNA probe.
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