Encyclopedia

APOE encodes a protein that carries lipids between cells. The familiar APOE e2, e3 and e4 groupings depend on the combination of rs429358 and rs7412, not on either marker read in isolation.

ATG16L1 is involved in autophagy, a process that helps cells recycle parts.

BCO1, also called BCMO1, helps convert beta-carotene from plant foods into retinal, a form used in vitamin A metabolism. Plant carotenoids and preformed vitamin A therefore enter the pathway at different points.

BHMT helps recycle homocysteine into methionine using betaine. It is a different route from the folate and B12 pathway.

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.