Encyclopedia

MTHFD1 helps move folate between forms used for different jobs in the body.

The homocysteine chapters include MTHFD1L in the wider folate-related genetic map.

Makes an enzyme that helps produce a form of folate used in the processing of homocysteine. Common variants are different from rare variants that cause severe MTHFR deficiency.

Makes the methionine synthase enzyme, which uses vitamin B12 in the conversion of homocysteine to methionine.

Helps maintain the activity of methionine synthase, connecting B12-related chemistry with homocysteine metabolism.

NOS3 encodes endothelial nitric oxide synthase, which helps blood vessels generate nitric oxide, a signal involved in vascular relaxation. This pathway is distinct from a blood pressure measurement or a diagnosis of vascular disease.

NQO1 is the gene name for NAD(P)H Quinone Oxidoreductase 1. Learn what a specific result could mean and what to ask about it.

NR3C2 encodes the mineralocorticoid receptor, which responds to hormones such as aldosterone and helps regulate salt and fluid balance. It is distinct from the NR3C1 glucocorticoid receptor.

Makes an enzyme involved in producing phosphatidylcholine, a component of cell membranes. Genetic findings alone do not establish a choline deficiency.

PON1 is discussed in relation to how the body handles some compounds and protects certain fats.

SHMT1 connects serine and glycine with folate chemistry.

SOD1 helps convert superoxide inside cells as part of the body’s antioxidant defenses.