Let’s explore “protein”

An amino acid used in protein synthesis and other metabolic processes.

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.

FOLR2 encodes folate receptor beta, a folate-binding protein expressed in particular cell types, including subsets of immune cells. It is distinct from the FOLR1 receptor and the SLC19A1 reduced folate carrier.

G6PC2 encodes a glucose-6-phosphatase-related protein expressed in pancreatic islet cells. Common variation is associated with differences in fasting glucose regulation; it is not the insulin receptor.

GDF5 encodes growth differentiation factor 5, a signaling protein involved in skeletal development, joint formation and cartilage biology. Its name does not mean a SNP measures the ability to build muscle.

HLA-DQA1 contributes to an HLA-DQ protein that presents antigen fragments to CD4 T cells. HLA-DQ function depends on pairing with an HLA-DQB chain, so an isolated marker is not a complete HLA type.

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.

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

TNF encodes tumor necrosis factor, an immune-signaling protein involved in inflammation, host defense and regulation of cell survival. Its name should not be read as proof that a TNF result indicates cancer.

Encodes the reduced folate carrier, a protein involved in transporting folates into cells.

CXCL8 is the gene for IL-8, a chemokine involved in recruiting and activating neutrophils. IL-8 is the protein nickname; CXCL8 is the gene name a DNA report may use.