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MMACHC Produits

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

Catégories

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.

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Catégories MMACHC en vedette

MMACHC Anticorps

High quality antibodies with extensive validation data.

MMACHC Protéines

Proteins for various applications incl. WB, ELISA, IF etc.

MMACHC recommandé Anticorps

Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human, Mouse
Application ICC, IF, IHC (p), WB
Validations
  • collections(5)
N° du produit ABIN2856443
Quantité 100 μL
Reactivity Human
Application WB
Validations
  • (5)
  • collections(1)
N° du produit ABIN1881544
Quantité 400 μL
Reactivity Human
Application WB
Validations
  • collections(2)
N° du produit ABIN525525
Quantité 100 μg

MMACHC recommandé Protéines

Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Source Insect Cells
Validations
  • collections(1)
N° du produit ABIN3083704
Quantité 1 mg
Reactivity Mouse
Source Insect Cells
Validations
  • collections(1)
N° du produit ABIN3128709
Quantité 1 mg
Reactivity Human
Source Wheat germ
Validations
  • collections(1)
N° du produit ABIN1311043
Quantité 10 μg

Dernières publications sur nos produits MMACHC

Moreno-Garcia, Pupavac, Rosenblatt, Tremblay, Jerome-Majewska: "The Mmachc gene is required for pre-implantation embryogenesis in the mouse." dans: Molecular genetics and metabolism, Vol. 112, Issue 3, pp. 198-204, (2014) (PubMed).

Mah, Deme, Watkins, Fung, Janer, Shoubridge, Rosenblatt, Coulton: "Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism." dans: Molecular genetics and metabolism, Vol. 108, Issue 2, pp. 112-8, (2013) (PubMed).

Deme, Miousse, Plesa, Kim, Hancock, Mah, Rosenblatt, Coulton: "Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism." dans: Molecular genetics and metabolism, Vol. 107, Issue 3, pp. 352-62, (2012) (PubMed).

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).

Froese, Zhang, Healy, Gravel: "Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria." dans: Molecular genetics and metabolism, Vol. 98, Issue 4, pp. 338-43, (2009) (PubMed).

Synonymes et noms alternatifs relatifs à MMACHC

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

Protein level used designations for MMACHC

  • methylmalonic aciduria and homocystinuria type C homolog
  • methylmalonic aciduria and homocystinuria type C protein homolog
  • methylmalonic aciduria and homocystinuria type C protein
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