Explore the
health encyclopedia.

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.

NTRK2 encodes TrkB, a receptor involved in responding to neurotrophic signals such as BDNF. These signals support nervous-system function and plasticity. NTRK2 is not a phosphatidylserine absorption transporter.

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.

PSEN1 encodes a presenilin protein that participates in gamma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis.

PSEN2 encodes a presenilin protein that participates in gamma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis.

PTGS2, commonly called COX-2, encodes an enzyme involved in prostaglandin production. Prostaglandins participate in pain, fever and inflammatory signaling.

SERPINE1 makes PAI-1, a protein involved in breaking down blood clots. You may also see PAI4G used for this pathway.

SHMT1 connects serine and glycine with folate chemistry.

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

SOD2 works in mitochondria as part of the body’s antioxidant defenses.

SOD3 works outside cells as part of the body’s antioxidant defenses.