Article
Insights on the structural perturbations in human MTHFR Ala222Val mutant by protein modeling and molecular dynamics.
Journal of biomolecular structure & dynamics - 1 Jan 2016
Abhinand P A, Shaikh Faraz, Bhakat Soumendranath, Radadiya Ashish, Bhaskar L V K S, Shah Anamik, Ragunath P K
Abstract excerpt
Methylenetetrahydrofolate reductase (MTHFR) protein catalyzes the only biochemical reaction which produces methyltetrahydrofolate, the active form of folic acid essential for several molecular functions. The Ala222Val polymorphism of human MTHFR encodes a thermolabile protein associated with increased risk of neural tube defects and cardiovascular disease. Experimental studies have shown that the mutation does...
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