Anti-MMACHC Antibody Picoband® fluoro647 Vervoeging

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene. 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.

Vitamin D-binding protein; DBP; VDB; Gc-globulin; Group-specific component; Gc

MMACHC

25974

Q9Y4U1

Human

No cross-reactivity with other proteins.

E.coli-derived human MMACHC recombinant protein (Position: M1-K242) .

Flow Cytometry

Actin Binding Proteins, Actin, etc., Cancer, Cytoskeleton, Cytoskeleton/ECM, Microfilaments, Signal Transduction, Tumor Antigens, Tumor Biomarkers, Tumor Immunology, Tumor-Associated Antigens

Immunogen affinity purified.

Liquid

Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.

1. Ben-Omran, T. I., Wong, H., Blaser, S., Feigenbaum, A. Late-onset cobalamin-C disorder: a challenging diagnosis. Am. J. Med. Genet. 143A: 979-984, 2007. 2. Bodamer, O. A. F., Rosenblatt, D. S., Appel, S. H., Beaudet, A. L. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC) . Neurology 56: 1113 only, 2001. 3. Collison, F. T., Xie, Y., Gambin, T., Jhangiani, S., Muzny, D., Gibbs, R., Lupski, J. R., Fishman, G. A., Allikmets, R. Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (clbC) with non-syndromic bull's eye maculopathy. Ophthal. Genet. 36: 270-275, 2015.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

6

Group specific component

Secreted.

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.