Figure 1 demonstrates the processes of the inclusion of the enzyme in which the elevated levels of homocysteine are the reaction where it is converted to methionine, and when this is broken down in the body, homocysteine is produced (Varga, 2015).
The gene encoding for the MTHFR enzyme is positioned on chromosome 1, with the length of the gene estimated at 2037 base pairs long. The enzyme product of the gene has 656 amino acids with a molecular weight of 74.7 KDA (Voet, Voet and Pratt, 2006). Homocysteine is viewed as a marker of disease with increasing levels of the amino acid known as hyperhomocysteinemia in the blood which has links to cardiovascular diseases (Voet, Voet and Pratt, 2006).
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Homocysteine is normally found in the blood at consistent levels so MTHFR expression is linked to elevated levels of the amino acid (Li et al., 2014).