Mouse Anti-MMAB Recombinant Antibody (CBFYM-2321) (CBMAB-M2506-FY)

Name: Mouse Anti-MMAB Recombinant Antibody (CBFYM-2321)
SKU: CBMAB-M2506-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYM-2321

Application

Immunogen

Full length human recombinant protein of human MMAB (NP_443077) 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

Concentration

0.86 mg/mL

Storage

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

More Infomation

Target

Full Name

METHYLMALONIC ACIDURIA (COBALAMIN DEFICIENCY) CBLB TYPE

Introduction

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B into adenosylcobalamin, a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found.

Entrez Gene ID

326625

UniProt ID

Q96EY8

Alternative Names

Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type; Cilia And Flagella Associated Protein 23; Methylmalonic Aciduria Type B Protein; ATP:Cob(I)Alamin Adenosyltransferase; Cob(I)Yrinic Acid A,C-Diamide Adenosyltransferase, Mitochondrial; Methylmalonic Aciduria (Cobalamin Deficiency) Type B; Aquocob(I)Alamin Vitamin B12s Adenosyltransferase; ATP:Corrinoid Adenosyltransferase

Function

Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion (PubMed:12514191).

Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP-binding to MMAB and gated by MMAA (Probable).

Biological Process

Cobalamin metabolic process Source: UniProtKB

Cellular Location

Mitochondrion

Involvement in disease

Methylmalonic aciduria type cblB (MMAB):
A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.

McCorvie, T. J., Ferreira, D., Yue, W. W., & Froese, D. S. (2023). The complex machinery of human cobalamin metabolism. Journal of Inherited Metabolic Disease, 46(3), 406-420.

Watkins, D., & Rosenblatt, D. S. (2022). Inherited defects of cobalamin metabolism. In Vitamins and Hormones (Vol. 119, pp. 355-376). Academic Press.

Forny, P., Plessl, T., Frei, C., Bürer, C., Froese, D. S., & Baumgartner, M. R. (2022). Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. Human Genetics, 1-15.

Kósa, M., Galla, Z., Lénárt, I., Baráth, Á., Grecsó, N., Rácz, G., ... & Monostori, P. (2022). Vitamin B12 (Cobalamin): Its Fate from Ingestion to Metabolism with Particular Emphasis on Diagnostic Approaches of Acquired Neonatal/Infantile Deficiency Detected by Newborn Screening. Metabolites, 12(11), 1104.

Song, K., Lee, H. S., Jia, L., Chelakkot, C., Rajasekaran, N., & Shin, Y. K. (2022). SMAD4 controls cancer cell metabolism by regulating methylmalonic aciduria cobalamin deficiency (cbl) B type. Molecules and Cells, 45(6), 413.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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

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