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MMADHC Antibody (C-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, E |
|---|---|
| Primary Accession | Q9H3L0 |
| Other Accession | Q6AYQ6, Q99LS1, NP_056517.1 |
| Reactivity | Human |
| Predicted | Mouse, Rat |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | Rabbit IgG |
| Calculated MW | 32940 Da |
| Antigen Region | 226-253 aa |
| Gene ID | 27249 |
|---|---|
| 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. |
| Dilution | WB~~1:1000 E~~Use at an assay dependent concentration. |
| 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. |
| Name | MMADHC (HGNC:25221) |
|---|---|
| Synonyms | C2orf25, CL25022 |
| 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). |
| 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.
Background
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.
References
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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