Sign in or Register   Sign in or Register
  |  

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

This product is mouse antibody that recognizes MMAA. The antibody CBFYM-2319 can be used for immunoassay techniques such as: IHC, WB.
See all MMAA antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-2319
Antibody Isotype
IgG1
Application
IHC, WB

Basic Information

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.

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.

Ask a question We look forward to hearing from you.
0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Loading...
Have you used Mouse Anti-MMAA Recombinant Antibody (CBFYM-2319)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon $30 eGift Card
Submit a review
Loading...
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.).

Online Inquiry

Documents

Contact us

  • Tel: (USA)
  • (UK)
  • Fax:
  • Email:

Submit A Review

Go to
Compare