MMACHC anticorps (C-Term)

N° du produit ABIN1881544

Détail du produit anti-MMACHC anticorps

Antigène: MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC))

Épitope: AA 239-267, C-Term

Reactivité: Humain

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp MMACHC est non-conjugé

Application: Western Blotting (WB)

Purification: This antibody is purified through a protein A column, followed by peptide affinity purification.

Immunogène: 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.

Clone: RB42667

Isotype: Ig Fraction

Information d'application

Indications d'application: WB: 1:1000

Restrictions: For Research Use only

Stockage

Format: Liquid

Buffer: Purified polyclonal antibody supplied in PBS with 0.09 % (W/V) sodium azide.

Agent conservateur: Sodium azide

Précaution d'utilisation: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Stock: 4 °C,-20 °C

Date de péremption: 6 months

Références pour anticorps anti-MMACHC (ABIN1881544)

Froese, Healy, McDonald, Kochan, Oppermann, Niesen, Gravel: "Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder." dans: 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." dans: 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." dans: 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." dans: 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)." dans: Human mutation, Vol. 30, Issue 11, pp. 1558-66, (2009) (PubMed).

Détails sur MMACHC

Antigène: MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC))

Autre désignation: MMACHC (MMACHC Produits)

Synonymes: anticorps cblC, anticorps RP11-291L19.3, anticorps RGD1310806, anticorps 1810037K07Rik, anticorps methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria, anticorps methylmalonic aciduria cblC type, with homocystinuria, anticorps MMACHC, anticorps Mmachc

Sujet: 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.

Poids moléculaire: 31728

NCBI Accession: NP_056321

UniProt: Q9Y4U1