Let’s explore “Genetics, CMA and blood tests”

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.

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.

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.

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.

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.