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MMADHC Antibody (C-term) Blocking Peptide

Synthetic peptide

     
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Product Information
Primary Accession Q9H3L0
Clone Names 110726123
Peptide ID 110726123
Additional Information
Gene ID 27249
Other Names Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMADHC, C2orf25, CL25022
Format Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
StorageMaintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.
PrecautionsThis product is for research use only. Not for use in diagnostic or therapeutic procedures.
Protein Information
Name MMADHC
Synonyms C2orf25, CL25022
Function Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).
Cellular Location Cytoplasm. Mitochondrion
Tissue Location Widely expressed at high levels.
Research Areas
Citations (0)

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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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$ 80.00
Cat# BP18061b
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