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MMACHC
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
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Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.[5]
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Function
The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake.[5] The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation of alkylcobalamins including methylcobalamin and adenosylcobalamin.[6] This function has also been attributed to cobalamin reductases.[7] The MMACHC gene product and cobalamin reductases enable the interconversion of cyano- and alkylcobalamins.[8][9]
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Clinical significance
Mutations are associated with combined homocystinuria and methylmalonic acidemia.[5][10][11][12][13]
References
Further reading
External links
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