Encyclopedia

BRCA1 helps repair damaged DNA. Clinically classified pathogenic variants can affect inherited cancer risk; a common SNP or a variant of uncertain significance is a different finding.

BRCA2 helps repair damaged DNA. Clinically classified pathogenic variants can affect inherited cancer risk; a common SNP or a variant of uncertain significance is a different finding.

CBS helps move homocysteine into the pathway that supplies building blocks for glutathione.

CD14 helps immune cells recognize microbial components, including bacterial lipopolysaccharide, as part of innate immune signaling. This places it upstream of some cytokine responses.

CHDH helps convert choline toward betaine, a nutrient involved in the homocysteine pathway.

COL5A1 encodes one component of type V collagen, which helps organize collagen fibers. It connects to the strength and structure of tendons, skin and other connective tissues.

Makes an enzyme that helps break down catechol compounds, including some neurotransmitters. A common variant does not by itself explain mood, attention or stress tolerance.

CTH helps make cysteine, one of the building blocks your body uses to make glutathione.

The older Purser genetics reference uses the heading “DAOA (AOC1)” in its gut section.

DHFR helps reduce folic acid and dihydrofolate to tetrahydrofolate-related forms used in cellular metabolism. This is one part of the folate system, distinct from MTHFR and folate transport into cells.

ESR1 encodes estrogen receptor alpha, which helps cells respond to estrogen. Receptor signaling is different from the amount of estrogen measured in blood.

Encodes an enzyme involved in fatty-acid metabolism.