MMACHC 产品
(Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC))
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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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Latest Publications for our MMACHC Products
: "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).
Synonyms and alternative names related to 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, RP11-291L19.3Protein 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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