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The exact function of the protein encoded by MMACHC is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Additionally we are shipping MMACHC Antibodies (63) and many more products for this protein.
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Human MMACHC Protein expressed in Escherichia coli (E. coli) - ABIN1098298
Lerner-Ellis, Tirone, Pawelek, Doré, Atkinson, Watkins, Morel, Fujiwara, Moras, Hosack, Dunbar, Antonicka, Forgetta, Dobson, Leclerc, Gravel, Shoubridge, Coulton, Lepage, Rommens, Morgan, Rosenblatt: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. in Nature genetics 2005
Show all 2 references for ABIN1098298
bCblCpro,a bovine homolog of a human B trafficking chaperone appears to be very sensitive to thermal denaturation, indicating that thermolability is a common property of CblC (show CBLC Proteins) proteins.
Case Report: c.567dupT,p.(Ile190Tyrfs*13) MMACHC heterozygous mutation underlying methylmalonic academia in infant.
Five different known mutations in either MUT (show MUT Proteins) or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia.
MMACHC mutation was found in children diagnosed with hemolytic uremic syndrome secondary to cobalamin C disorder.
the MMACHC-MMADHC (show MMADHC Proteins) complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl (show CBL Proteins) binding site
These results indicated that hypergonadotropic hypogonadism (show LHCGR Proteins) may be a novel clinical manifestation of cblC (show CBLC Proteins) disease, but more reports on additional patients are needed to support this hypothesis.
an adult patient with bull's eye macular lesions and no clinically relevant systemic symptoms was diagnosed with cblC (show CBLC Proteins) by genetic screening and follow-up biochemical laboratory tests.
A novel mutation p.G155R of the MMACHC gene is identified in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
Results propose a model whereby membrane-bound LMBD1 (show LMBRD1 Proteins) and ABCD4 (show ABCD4 Proteins) facilitate the vectorial delivery of lysosomal vitamin B12 (show NDUFB3 Proteins) to cytoplasmic MMACHC.
mutation analysis of the MMACHC gene in four patients revealed novel heterozygous mutations at nucleotide 276 (c.276G > A [p.Glu926Glu] and c.276G > T [p.Glu92Asp]), which is located at the end of exon 2.
HCFC1 (show HCFC1 Proteins) plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression
The Mmachc gene is required for pre-implantation embryogenesis in the mouse.
During organogenesis Mmachc and Mmadhc (show MMADHC Proteins) may interact in only a subset of cells.
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.
methylmalonic aciduria and homocystinuria type C homolog
, methylmalonic aciduria and homocystinuria type C protein homolog
, methylmalonic aciduria and homocystinuria type C protein