MMADHC Antibody (C-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | Q9H3L0 |
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Clone Names | 110726123 |
Gene ID | 27249 |
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Other Names | Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMADHC, C2orf25, CL25022 |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
Name | MMADHC (HGNC:25221) |
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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 involvedin 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 andhomocystinuria type cblD (MMADHC), a disorder of cobalaminmetabolism that is characterized by decreased levels of thecoenzymes adenosylcobalamin and methylcobalamin. Pseudogenes havebeen 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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