This antibody is purified through a protein A column, followed by peptide affinity purification.
Immunogen
This MMACHC antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 239-267 amino acids from the C-terminal region of human MMACHC.
MMACHC
Reaktivität: Human
WB
Wirt: Kaninchen
Polyclonal
unconjugated
Applikationshinweise
WB: 1:1000
Beschränkungen
Nur für Forschungszwecke einsetzbar
Format
Liquid
Buffer
Purified polyclonal antibody supplied in PBS with 0.09 % (W/V) sodium azide.
Konservierungsmittel
Sodium azide
Vorsichtsmaßnahmen
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Lagerung
4 °C,-20 °C
Haltbarkeit
6 months
Froese, Healy, McDonald, Kochan, Oppermann, Niesen, Gravel: "Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder." in: Molecular genetics and metabolism, Vol. 100, Issue 1, pp. 29-36, (2010) (PubMed).
Davila, Froeling, Tan, Bonnard, Boland, Snippe, Hibberd, Seielstad: "New genetic associations detected in a host response study to hepatitis B vaccine." in: Genes and immunity, Vol. 11, Issue 3, pp. 232-8, (2010) (PubMed).
Profitlich, Kirmse, Wasserstein, Diaz, Srivastava: "High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria." in: Molecular genetics and metabolism, Vol. 98, Issue 4, pp. 344-8, (2009) (PubMed).
Kim, Hannibal, Gherasim, Jacobsen, Banerjee: "A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins." in: The Journal of biological chemistry, Vol. 284, Issue 48, pp. 33418-24, (2009) (PubMed).
Richard, Jorge-Finnigan, Garcia-Villoria, Merinero, Desviat, Gort, Briones, Leal, Pérez-Cerdá, Ribes, Ugarte, Pérez: "Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)." in: Human mutation, Vol. 30, Issue 11, pp. 1558-66, (2009) (PubMed).
Target
MMACHC
(Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC))
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.