Anti-MMACHC Antibody Picoband® Fluoro488 Conjugated

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.

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

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.