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Mouse Anti-MMACHC Recombinant Antibody (CBFYM-2322) (CBMAB-M2507-FY)

This product is mouse antibody that recognizes MMACHC. The antibody CBFYM-2322 can be used for immunoassay techniques such as: WB, FC, IHC, IF.
See all MMACHC antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-2322
Antibody Isotype
IgG1
Application
WB, FC, IHC, IF

Basic Information

Immunogen
Full length human recombinant protein of human MMACHC (NP_056321) produced in HEK293T cell
Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
METHYLMALONIC ACIDURIA (COBALAMIN DEFICIENCY) CBLC TYPE, WITH HOMOCYSTINURIA
Introduction
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC.
Entrez Gene ID
25974
UniProt ID
Q9Y4U1
Alternative Names
Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria; Cyanocobalamin Reductase (Cyanide-Eliminating); CblC; Methylmalonic Aciduria And Homocystinuria Type C Protein; EC 1.16.1.-
Function
Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate (PubMed:18779575, PubMed:19700356, PubMed:21697092, PubMed:25809485).

Cyanocobalamin constitutes the inactive form of vitamin B12 introduced from the diet, and is converted into the active cofactors methylcobalamin (MeCbl) involved in methionine biosynthesis, and 5'-deoxyadenosylcobalamin (AdoCbl) involved in the TCA cycle (PubMed:19801555).

Forms a complex with the lysosomal transporter ABCD4 and its chaperone LMBRD1, to transport cobalamin across the lysosomal membrane into the cytosol (PubMed:25535791).

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:21071249, PubMed:27771510).

Also acts as a glutathione transferase by catalyzing the dealkylation of the alkylcob(III)alamins MeCbl and AdoCbl, using the thiolate of glutathione for nucleophilic displacement to generate cob(I)alamin and the corresponding glutathione thioether (PubMed:19801555, PubMed:21697092, PubMed:22642810, PubMed:25809485).

The conversion of incoming MeCbl or AdoCbl into a common intermediate cob(I)alamin is necessary to meet the cellular needs for both cofactors (PubMed:19801555).

Cysteine and homocysteine cannot substitute for glutathione in this reaction (PubMed:19801555).
Biological Process
Cobalamin metabolic process Source: UniProtKB
Demethylation Source: UniProtKB
Gglutathione metabolic process Source: UniProtKB
Cellular Location
Cytosol
Involvement in disease
Methylmalonic aciduria and homocystinuria, cblC type (MAHCC):
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.

Kiessling, E., Peters, F., Ebner, L. J., Merolla, L., Samardzija, M., Baumgartner, M. R., ... & Froese, D. S. (2022). HIF1 and DROSHA are involved in MMACHC repression in hypoxia. Biochimica et Biophysica Acta (BBA)-General Subjects, 1866(9), 130175.

Hannibal, L., & Jacobsen, D. W. (2022). Intracellular processing of vitamin B12 by MMACHC (CblC). Vitamins and Hormones, 119, 275-298.

Oussalah, A., Siblini, Y., Hergalant, S., Chéry, C., Rouyer, P., Cavicchi, C., ... & Guéant, J. L. (2022). Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clinical epigenetics, 14(1), 1-13.

Sorin, M., Watkins, D., Gilfix, B. M., & Rosenblatt, D. S. (2021). Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC. Molecular Genetics and Metabolism, 132(3), 155-161.

Zhang, X., Chen, Q., Song, Y., Guo, P., Wang, Y., Luo, S., ... & Wei, H. (2021). Epimutation of MMACHC compound to a genetic mutation in cblC cases. Molecular Genetics & Genomic Medicine, 9(6), e1625.

Kaur, R., Attri, S. V., Saini, A. G., & Sankhyan, N. (2021). A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect. Amino acids, 53, 253-264.

Cavicchi, C., Oussalah, A., Falliano, S., Ferri, L., Gozzini, A., Gasperini, S., ... & Morrone, A. (2021). PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono-or bi-allelic MMACHC epimutations. Clinical Epigenetics, 13(1), 1-12.

Sloan, J. L., Achilly, N. P., Arnold, M. L., Catlett, J. L., Blake, T., Bishop, K., ... & Venditti, C. P. (2020). The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology. Human Molecular Genetics, 29(13), 2109-2123.

He, R., Mo, R., Shen, M., Kang, L., Song, J., Liu, Y., ... & Yang, Y. (2020). Variable phenotypes and outcomes associated with the MMACHC c. 609G> A homologous mutation: long term follow-up in a large cohort of cases. Orphanet Journal of Rare Diseases, 15, 1-9.

Wang, C., Li, D., Cai, F., Zhang, X., Xu, X., Liu, X., ... & Shu, J. (2019). Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: a case series and literature review. European journal of medical genetics, 62(10), 103713.

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For research use only. Not intended for any clinical use.

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