Mouse Anti-MMADHC (AA 39-296) Recombinant Antibody (CBFYM-2323) (CBMAB-M2508-FY)

Name: Mouse Anti-MMADHC (AA 39-296) Recombinant Antibody (CBFYM-2323)
SKU: CBMAB-M2508-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-2323

Application

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

Concentration

1 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.

Epitope

AA 39-296

More Infomation

Target

Full Name

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE

Introduction

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD, a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.

Entrez Gene ID

25974

UniProt ID

Q9Y4U1

Alternative Names

Methylmalonic Aciduria And Homocystinuria, CblD Type; Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, With Homocystinuria; C2orf25; CL25022; CblD; Methylmalonic Aciduria And Homocystinuria Type D Protein, Mitochondrial; Chromosome 2 Open Reading Frame 25; Protein C2orf25, Mitochondrial

Function

Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851).

Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497,PubMed:23415655, PubMed:24722857).

Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).

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:27771510).

Biological Process

Cobalamin metabolic process Source: UniProtKB

Cellular Location

Mitochondrion
Cytoplasm

Involvement in disease

Methylmalonic aciduria and homocystinuria, cblD type (MAHCD):
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).

Torices Cabarcos, L. (2023). Premature termination codons as a source of pathogenic proteoform diversity in PTEN, VHL and MMADHC genes: relevance of premature termination codon readthrough based therapy.

Torices, L., de Las Heras, J., Arango-Lasprilla, J. C., Cortés, J. M., Nunes-Xavier, C. E., & Pulido, R. (2021). MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution. Molecular Genetics and Metabolism Reports, 26, 100710.

Bhat, V., Narayanan, D. L., & Shukla, A. (2021). Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect. BMJ Case Reports, 14(6).

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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.

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