MMACHC Antibody (B-5): sc-518236

MMACHC Antibody (B-5) is a mouse monoclonal IgG1 kappa light chain antibody specific for an epitope mapping between amino acids 100-119 of MMACHC of human origin by western blotting (WB), immunoprecipitation (IP), immunofluorescence (IF), and enzyme-linked immunosorbent assay (ELISA). MMACHC monoclonal antibody (B-5) is available in both non-conjugated and various conjugated forms, including agarose, horseradish peroxidase (HRP), phycoerythrin (PE), fluorescein isothiocyanate (FITC), and multiple Alexa Fluor® conjugates. MMACHC protein, also known as cblC, consists of 282 amino acids and is crucial for binding and intracellular trafficking of cobalamin (vitamin B12). MMACHC′s function is vital because MMACHC facilitates proper metabolism of vitamin B12, which is essential for synthesizing coenzymes that play significant roles in various metabolic pathways. Deficiencies in MMACHC lead to methylmalonic aciduria and homocystinuria type cblC, a serious disorder characterized by impaired cobalamin metabolism and resulting in decreased levels of adenosylcobalamin and methylcobalamin coenzymes. These coenzymes are critical for enzyme activity involved in cholesterol catabolism, branched-chain amino acids, and odd-numbered fatty acids, as well as cell growth and replication. Consequently, individuals with defects in MMACHC may experience severe developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic issues, underscoring MMACHC′s importance in human health. Anti-MMACHC antibody (B-5) serves as an essential resource for studying molecular mechanisms underlying cobalamin metabolism and related metabolic disorders.

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MMACHC Antibody (B-5) References:

1. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.  |  Morel, CF., et al. 2006. Mol Genet Metab. 88: 315-21. PMID: 16714133
2. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.  |  Tsai, AC., et al. 2007. Am J Med Genet A. 143A: 2430-4. PMID: 17853453
3. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.  |  Nogueira, C., et al. 2008. Mol Genet Metab. 93: 475-80. PMID: 18164228
4. Decyanation of vitamin B12 by a trafficking chaperone.  |  Kim, J., et al. 2008. Proc Natl Acad Sci U S A. 105: 14551-4. PMID: 18779575
5. Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.  |  Loewy, AD., et al. 2009. Mol Genet Metab. 96: 261-7. PMID: 19200761
6. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.  |  Lerner-Ellis, JP., et al. 2009. Hum Mutat. 30: 1072-81. PMID: 19370762
7. cblC: advances in defining the MMACHC mutation spectrum.  |  Kraus, JP. 2009. Hum Mutat. 30: v. PMID: 19551759
8. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).  |  Richard, E., et al. 2009. Hum Mutat. 30: 1558-66. PMID: 19760748
9. Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.  |  Froese, DS., et al. 2010. Mol Genet Metab. 100: 29-36. PMID: 20219402
10. Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.  |  Sorin, M., et al. 2021. Mol Genet Metab. 132: 155-161. PMID: 33487542
11. Intracellular processing of vitamin B12 by MMACHC (CblC).  |  Hannibal, L. and Jacobsen, DW. 2022. Vitam Horm. 119: 275-298. PMID: 35337623
12. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.  |  Oussalah, A., et al. 2022. Clin Epigenetics. 14: 52. PMID: 35440018

Monoclonal antibodies for mammalian and non-mammalian protein targets represent essentially all targets covered by polyclonal antibodies. Over 8,300 of our antibodies are offered as ImmunoCruz^® conjugates which eliminates the need for a secondary antibody.

Santa Cruz Biotechnology antibodies have over 360,000 research citations. Anti-MMACHC Antibody (B-5) has 0 citations in a variety of scientific publications.

Primary antibodies like Anti-MMACHC Antibody (B-5) for mammalian target proteins are recommended for the detection of a range of mammalian species, primarily of mouse, rat and human species. Many mammalian antibodies are also ideal for veterinary research and reactive with ovine, porcine, caprine, feline, canine, bovine and equine protein targets. Santa Cruz Biotechnology primary monoclonal antibodies are suitable for laboratory research applications and are not intended for diagnostic or therapeutic use.

MMACHC Antibody (B-5) Specifications

Alternate Product Name: MMACHC

Product Clone Name: B-5

Classification: Primary Antibody

Clonality: Monoclonal Antibody

Antibody Isotype: IgG₁ kappa light chain

Amino Acids: 100-119

Epitope Target: MMACHC

Epitope Species: human

Product Reactivity/Detection: MMACHC

Species Reactivity/Detection: human

Additional Mammalian Reactivity: N/A

Additional Non-Mammalian Reactivity: N/A

Applications: WB, IP, IF, ELISA

Vialing Information: Each vial contains 200 µg IgG₁ kappa light chain in 1.0 ml of PBS with < 0.1% sodium azide and 0.1% gelatin

Research Citations: 0 citations in various scientific publications

Available Conjugates/Forms for MMACHC Antibody (B-5): AC: Agarose, AF488: Alexa Fluor^® 488, AF546: Alexa Fluor^® 546, AF594: Alexa Fluor^® 594, AF647: Alexa Fluor^® 647, AF680: Alexa Fluor^® 680, AF790: Alexa Fluor^® 790, FITC: Fluoroscein, HRP: Horseradish Peroxidase, PE: Phycoerythrin