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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 (65) and many more products for this protein.
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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.
The epimutation is present in three generations and results from PRDX1 (show PRDX1 Proteins) mutations that force antisense transcription of MMACHC.
Partial CblC (show CBLC Proteins)-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 Proteins).
Sequencing of the MMACHC gene is used for confirming the diagnosis of cblC (show CBLC Proteins) 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 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.
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