MMACHC, Monoclonal Antibody

Monoclonal MMACHC; Anti-MMACHC; cblC; DKFZp564I122; FLJ25671; RP11-291L19.3

For Research Use Only. Not for use in diagnostic procedures.

Monoclonal

IgG1

4E9

Mouse

MMACHC antibody was purified by affinity chromatography.

Supplied in PBS buffer, pH 7.3, containing 1% BSA, 50% glycerol and 0.02% sodium azide.

0.5-1 mg/ml (lot specific)

Store at 4 degree C for short term storage. Aliquot and store at -20 degree C for long term storage. Avoid repeated freeze/thaw cycles.

Small volumes of anti-MMACHC antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Mouse monoclonal MMACHC antibody

DNA & RNA

Flow Cytometry (FC/FACS), Western Blot (WB)

FC: 1:100
WB: 1:2000

Flow Cytometric analysis of HEK293T cells transfected with either recombinant MMACHC protein (red) or empty vector (blue) stained using MMACHC antibody

Western Blot analysis of HEK293T cell lysates (5 ug) transfected with either recombinant MMACHC protein (Right) or empty vector (Left) detected with MMACHC antibody

31,728 Da

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

methylmalonic aciduria and homocystinuria type C protein

Methylmalonic aciduria and homocystinuria type C protein

MMAC_HUMAN

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

MMACHC: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMAHCC). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in *****hood. Belongs to the MMACHC family.

Protein type: Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: mitochondrion; cytosol

Molecular Function: protein binding; cobalamin binding

Biological Process: vitamin metabolic process; cobalamin biosynthetic process; cobalamin metabolic process; water-soluble vitamin metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type

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