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AB126674

Recombinant Human MMACHC/CblC protein (His tag N-Terminus)

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Recombinant Human MMACHC/CblC protein (His tag N-Terminus) is a Human Full Length protein, in the 1 to 282 aa range, expressed in Escherichia coli, with >90%, suitable for SDS-PAGE, Mass Spec.

View Alternative Names

Cyanocobalamin reductase / alkylcobalamin dealkylase, Alkylcobalamin:glutathione S-alkyltransferase, CblC, Cyanocobalamin reductase (cyanide-eliminating), Methylmalonic aciduria and homocystinuria type C protein, MMACHC

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SDS-PAGE - Recombinant Human MMACHC/CblC protein (His tag N-Terminus) (AB126674)
  • SDS-PAGE

Supplier Data

SDS-PAGE - Recombinant Human MMACHC/CblC protein (His tag N-Terminus) (AB126674)

3ug by SDS-PAGE under reducing conditions and visualized by coomassie blue stain.

Key facts

Purity

>90% SDS-PAGE

Expression system

Escherichia coli

Tags

His tag N-Terminus

Applications

SDS-PAGE, Mass Spec

applications

Biologically active

No

Accession

Q9Y4U1

Animal free

No

Carrier free

No

Species

Human

Storage buffer

pH: 8 Constituents: 10% Glycerol (glycerin, glycerine), 0.88% Sodium chloride, 0.32% Tris HCl, 0.02% (R*,R*)-1,4-Dimercaptobutan-2,3-diol

storage-buffer

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Reactivity data

{ "title": "Reactivity Data", "filters": { "stats": ["", "Reactivity", "Dilution Info", "Notes"] }, "values": { "SDS-PAGE": { "reactivity":"TESTED_AND_REACTS", "dilution-info":"", "notes":"<p></p>" }, "Mass Spec": { "reactivity":"TESTED_AND_REACTS", "dilution-info":"", "notes":"<p></p>" } } }
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Product details

This product was previously labelled as MMACHC
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Sequence info

[{"sequence":"MGSSHHHHHHSSGLVPRGSHMGSHMEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP","proteinLength":"Full Length","predictedMolecularWeight":"34 kDa","actualMolecularWeight":null,"aminoAcidEnd":282,"aminoAcidStart":1,"nature":"Recombinant","expressionSystem":"Escherichia coli","accessionNumber":"Q9Y4U1","tags":[{"tag":"His","terminus":"N-Terminus"}]}]
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Properties and storage information

Shipped at conditions
Blue Ice
Appropriate short-term storage duration
1-2 weeks
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
False
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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.
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Specifications

Form

Liquid

Additional notes

Purified using conventional chromatography techniques

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General info

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).

Sequence similarities

Belongs to the MMACHC family.

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Product protocols

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Target data

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).
See full target information MMACHC
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