MMACHC, Polyclonal Antibody

cblC

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

Polyclonal

IgG

Rabbit

Store at -20 degree C. Avoid freeze/thaw cycles.

Manufactured in an ISO 9001:2015 Certified Laboratory.

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.

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.

Western Blot (WB)

WB: 1:1000 - 1:2000

31kDa

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

methylmalonic aciduria and homocystinuria type C protein

Methylmalonic aciduria and homocystinuria type C protein

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: cytoplasm; cytosol

Molecular Function: cyanocobalamin reductase (cyanide-eliminating) activity; demethylase activity; glutathione binding; oxidoreductase activity; protein binding; protein homodimerization activity

Biological Process: cobalamin biosynthetic process; cobalamin metabolic process; glutathione metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type

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