Mouse Anti-MMAA Recombinant Antibody (CBFYM-2319) (CBMAB-M2504-FY)

Name: Mouse Anti-MMAA Recombinant Antibody (CBFYM-2319)
SKU: CBMAB-M2504-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

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

Basic Information

Host Animal

Mouse

Clone

CBFYM-2319

Application

IHC, WB

Immunogen

MMAA antibody was raised in mouse using a full length recombinant protein of human MMAA (NP_785454) produced in HEK293T cells

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

Buffer

PBS, pH 7.3, 1% BSA, 50% glycerol

Preservative

0.02% Sodium azide

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) CBLA TYPE

Introduction

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.

Entrez Gene ID

166785

UniProt ID

Q8IVH4

Alternative Names

Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type; Methylmalonic Aciduria (Cobalamin Deficiency) Type A; Methylmalonic Aciduria Type A Protein, Mitochondrial; Mutant Adenosylcobalamin; EC 3.6.-.-; CblA

Function

GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572, PubMed:21138732, PubMed:28943303).

Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis (PubMed:28497574, PubMed:20876572).

Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) (PubMed:28497574, PubMed:20876572).

Plays a dual role as both a protectase and a reactivase for MMUT (PubMed:21138732, PubMed:28943303).

Protects MMUT from progressive inactivation by oxidation by decreasing the rate of the formation of the oxidized inactive cofactor hydroxocobalamin (OH2Cbl) (PubMed:21138732, PubMed:28943303).

Additionally acts a reactivase by promoting the replacement of OH2Cbl by the active cofactor AdoCbl, restoring the activity of MMUT in the presence and hydrolysis of GTP (PubMed:21138732, PubMed:28943303).

Biological Process

Cobalamin metabolic process Source: MGI

Cellular Location

Cytoplasm
Mitochondrion

Involvement in disease

Methylmalonic aciduria type cblA (MMAA):
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.

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.

Baumgartner, M. R., & Froese, D. S. (2022). Disorders of Cobalamin Metabolism. In Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases (pp. 497-513). Cham: Springer International Publishing.

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

Matmat, K., Guéant-Rodriguez, R. M., Oussalah, A., Wiedemann-Fodé, A., Dionisi-Vici, C., Coelho, D., ... & Conart, J. B. (2021). Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review. Human Genetics, 1-13.

Sloan, J. L., Carrillo, N., Adams, D., & Venditti, C. P. (2021). Disorders of intracellular cobalamin metabolism.

Kather, S., Grützner, N., Kook, P. H., Dengler, F., & Heilmann, R. M. (2020). Review of cobalamin status and disorders of cobalamin metabolism in dogs. Journal of veterinary internal medicine, 34(1), 13-28.

Huemer, M., & Baumgartner, M. R. (2019). The clinical presentation of cobalamin‐related disorders: from acquired deficiencies to inborn errors of absorption and intracellular pathways. Journal of inherited metabolic disease, 42(4), 686-705.

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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

Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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