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

This product is mouse antibody that recognizes MMADHC. The antibody CBFYM-2323 can be used for immunoassay techniques such as: WB.
See all MMADHC antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-2323
Antibody Isotype
IgG1
Application
WB

Basic Information

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

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

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