MMACHC Produkte
(Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC))
Kategorien
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. [provided by RefSeq, Oct 2009].
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Ausgewählte MMACHC Kategorien
MMACHC Antikörper
High quality antibodies with extensive validation data.
MMACHC Proteine
Proteins for various applications incl. WB, ELISA, IF etc.
Empfohlene MMACHC Antikörper
Produkt
Reaktivität
Applikation
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität
Human, Mouse
Applikation
WB, IF, IHC (p), ICC
Validierungen
- (5)
Kat. Nr.
ABIN2856443
Menge
100 μL
Datenblatt
Datenblatt
Reaktivität
Human
Applikation
WB, ELISA, IHC
Validierungen
- (3)
Kat. Nr.
ABIN7159656
Menge
100 μL
Datenblatt
Datenblatt
Reaktivität
Human
Applikation
ELISA, IHC
Validierungen
- (2)
Kat. Nr.
ABIN7159655
Menge
100 μL
Datenblatt
Datenblatt
Empfohlene MMACHC Proteine
Produkt
Reaktivität
Source
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität
Human
Source
Escherichia coli (E. coli)
Validierungen
- (1)
Kat. Nr.
ABIN7123941
Menge
50 μg
Datenblatt
Datenblatt
Reaktivität
Human
Source
Wheat germ
Validierungen
- (1)
Kat. Nr.
ABIN1311043
Menge
10 μg
Datenblatt
Datenblatt
Reaktivität
Human
Source
Escherichia coli (E. coli)
Validierungen
Kat. Nr.
ABIN2130615
Menge
100 μg
Datenblatt
Datenblatt
Neueste Publikationen zu unseren MMACHC Produkten
: "The Mmachc gene is required for pre-implantation embryogenesis in the mouse." in: Molecular genetics and metabolism, Vol. 112, Issue 3, pp. 198-204, (2014) (PubMed).: "Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism." in: Molecular genetics and metabolism, Vol. 108, Issue 2, pp. 112-8, (2013) (PubMed).
: "Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism." in: Molecular genetics and metabolism, Vol. 107, Issue 3, pp. 352-62, (2012) (PubMed).
: "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).
: "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).
: "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).
: "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).
: "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).
: "Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria." in: Molecular genetics and metabolism, Vol. 98, Issue 4, pp. 338-43, (2009) (PubMed).
Synonyme und alternative Namen zu 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, RP11-291L19.3Bezeichner auf Proteinebene für 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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