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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 (64) and MMACHC Proteins (7) and many more products for this protein.
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 ELISA Kits) proteins.
Partial CblC (show CBLC ELISA Kits)-type inherited Methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A) can onset with severe metabolic Atypical hemolytic uremic syndrome.
The crystal structure of ceCblC provides insights into how architectural differences at the alpha- and beta-faces of cobalamin promote the thiol oxidase activity of ceCblC but mute it in wild-type human CblC (show CBLC ELISA Kits).
Sequencing of the MMACHC gene is used for confirming the diagnosis of cblC (show CBLC ELISA Kits) disease. MMACHC mutations were found in all the nine patients. 7 different mutations were identified, including c.609G>A, c.455_457delCCC, c.394C>T, c.445_446insA, c.658_660delAAG, c.452A>G and IVS1+1G>A. The most frequent mutation was c.609G>A (6/9). Two patients had homozygous mutations (c.445_446insA/c.445_446insA and c.609G>A/c.609G>A).
Case Report: c.567dupT,p.(Ile190Tyrfs*13) MMACHC heterozygous mutation underlying methylmalonic academia in infant.
Five different known mutations in either MUT (show MUT ELISA Kits) 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 ELISA Kits) complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl (show CBL ELISA Kits) binding site
These results indicated that hypergonadotropic hypogonadism (show LHCGR ELISA Kits) may be a novel clinical manifestation of cblC (show CBLC ELISA Kits) 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 ELISA Kits) 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.
The Mmachc gene is required for pre-implantation embryogenesis in the mouse.
During organogenesis Mmachc and Mmadhc (show MMADHC ELISA Kits) 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