Recombinant Human MMADHC protein is a Human Full Length protein, in the 1 to 296 aa range, expressed in Wheat germ and suitable for ELISA, WB.
Images
Key facts
- Expression system
- Wheat germ
- Tags
- GST tag N-Terminus
- Applications
- ELISA, WB
- Biologically active
- No
Amino acid sequence
M A N V L C N R A R L V S Y L P G F C S L V K R V V N P K A F S T A G S S G S D E S H V A A A P P D I C S R T V W P D E T M G P F G P Q D Q R F Q L P G N I G F D C H L N G T A S Q K K S L V H K T L P D V L A E P L S S E R H E F V M A Q Y V N E F Q G N D A P V E Q E I N S A E T Y F E S A R V E C A I Q T C P E L L R K D F E S L F P E V A N G K L M I L T V T Q K T K N D M T V W S E E V E I E R E V L L E K F I N G A K E I C Y A L R A E G Y W A D F I D P S S G L A F F G P Y T N N T L F E T D E R Y R H L G F S V D D L G C C K V I R H S L W G T H V V V G S I F T N A T P D S H I M K K L S G N
Reactivity data
| Application | Reactivity | Dilution info | Notes |
|---|---|---|---|
Application ELISA | Reactivity Reacts | Dilution info - | Notes - |
Application WB | Reactivity Reacts | Dilution info - | Notes - |
Target data
Function
Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497, PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). 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:27771510).
Alternative names
C2orf25, CL25022, HSPC161, My011, MMADHC, Cobalamin trafficking protein CblD, CblD
Recommended products
Recombinant Human MMADHC protein is a Human Full Length protein, in the 1 to 296 aa range, expressed in Wheat germ and suitable for ELISA, WB.
Key facts
- Expression system
- Wheat germ
- Tags
- GST tag N-Terminus
- Applications
- ELISA, WB
- Biologically active
- No
- Accession
- Q9H3L0-1
- Animal free
- No
- Species
- Human
- Concentration
- Storage buffer
pH: 8
Constituents: 0.79% Tris HCl, 0.31% Glutathione
Sequence info
Amino acid sequence
- M A N V L C N R A R L V S Y L P G F C S L V K R V V N P K A F S T A G S S G S D E S H V A A A P P D I C S R T V W P D E T M G P F G P Q D Q R F Q L P G N I G F D C H L N G T A S Q K K S L V H K T L P D V L A E P L S S E R H E F V M A Q Y V N E F Q G N D A P V E Q E I N S A E T Y F E S A R V E C A I Q T C P E L L R K D F E S L F P E V A N G K L M I L T V T Q K T K N D M T V W S E E V E I E R E V L L E K F I N G A K E I C Y A L R A E G Y W A D F I D P S S G L A F F G P Y T N N T L F E T D E R Y R H L G F S V D D L G C C K V I R H S L W G T H V V V G S I F T N A T P D S H I M K K L S G N
- Accession
- Q9H3L0
- Protein length
- Full Length
- Amino acids
- 1 to 296
- Nature
- Recombinant
- Tags
- GST tag N-Terminus
Specifications
- Form
- Liquid
General info
- Function
Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497, PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). 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:27771510).
- Subcellular localisation
- Mitochondrion
Storage
- Shipped at conditions
- Dry Ice
- Appropriate short-term storage conditions
- -80°C
- Appropriate long-term storage conditions
- -80°C
- Aliquoting information
- Upon delivery aliquot
- Storage information
- Avoid freeze / thaw cycle
Notes
This product was previously labelled as C2ORF25.
Supplementary info
- This supplementary information is collated from multiple sources and compiled automatically.
- Activity summary
MMADHC also known as methylmalonic aciduria and homocystinuria cblD type is a protein involved in the metabolism of vitamin B12. It has a molecular weight of approximately 32 kDa. MMADHC is expressed in various tissues including liver kidney and brain. It acts as a chaperone-like factor that helps direct cobalamin into the cytosol and mitochondrian important for vitamin B12-associated reactions.
- Biological function summary
MMADHC plays a role in the intracellular processing of vitamin B12. It is not part of a complex but interacts closely with the mitochondrial methylmalonyl-CoA mutase and cytosolic methionine synthase pathways. By assisting in cobalamin transport it enables the conversion of methylmalonic acid to succinyl-CoA and homocysteine to methionine therefore supporting essential cellular reactions.
- Pathways
MMADHC contributes to the cobalamin metabolic pathway and the methionine metabolism pathway. In the cobalamin pathway it works alongside proteins like MMACHC and MCM to facilitate vitamin B12 metabolism. It ensures that vitamin B12 reaches its target enzymes efficiently which is vital for methylation processes and energy production pathways in the mitochondria.
- Associated diseases and disorders
Mutations in MMADHC are linked to methylmalonic aciduria with homocystinuria cblD type. This disorder results from improper processing of vitamin B12 and often leads to neurological and metabolic complications. The protein is associated with disorders involving defective cobalamin metabolism alongside MMACHC highlighting its key role in maintaining normal vitamin B12-dependent enzyme function.
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1 product image
SDS-PAGE - Recombinant Human MMADHC protein (ab162126)
ab162126 on a 12.5% SDS-PAGE stained with Coomassie Blue.
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