MMACHC antibody (C-Term)

Catalog No. ABIN1881544

Product Details anti-MMACHC Antibody

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

Binding Specificity: AA 239-267, C-Term

Reactivity: Human

Host: Rabbit

Clonality: Polyclonal

Conjugate: This MMACHC antibody is un-conjugated

Application: Western Blotting (WB)

Purification: 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.

Clone: RB42667

Isotype: Ig Fraction

Application Details

Application Notes: WB: 1:1000

Restrictions: For Research Use only

Handling

Format: Liquid

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

Preservative: Sodium azide

Precaution of Use: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Storage: 4 °C,-20 °C

Expiry Date: 6 months

References for anti-MMACHC antibody (ABIN1881544)

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 Details for MMACHC

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

Alternative Name: MMACHC (MMACHC Products)

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

Background: 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.

Molecular Weight: 31728

NCBI Accession: NP_056321

UniProt: Q9Y4U1