Let’s explore “Hirschsprung’s disease & genetics”

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.

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

VDR encodes the vitamin D receptor, which helps regulate gene activity in response to active vitamin D. A receptor variant does not by itself mean receptors are absent or that the blood vitamin D level is low.

CCL11 encodes eotaxin-1, a chemokine best known for attracting eosinophils. Its receptor relationships connect it to allergic inflammation as well as broader research into immune signaling.

CCL2 encodes MCP-1, a chemokine that attracts monocytes toward sites of immune activity. Recruitment is a different task from the cytokines that activate those cells once they arrive.

CCL4 encodes MIP-1 beta, a chemokine involved in attracting immune cells. It participates in a recruitment network that includes CCL2, CXCL8 and related chemokines.

CCL5, also called RANTES, is a chemokine that helps direct immune-cell movement. Chemokines tell cells where to go, which is different from measuring the total strength of an immune response.

CD40 encodes a receptor that participates in communication between immune cells, including T-cell help for B-cell responses. Its partner is CD40 ligand, encoded by CD40LG.

CETP transfers cholesteryl esters between lipoprotein particles. This helps explain why the balance of HDL and other lipid particles is more complex than a single cholesterol number.

CXCL13 is a chemokine that attracts cells expressing CXCR5, including B cells. This pairing helps organize immune-cell traffic in lymphoid tissues and some chronic inflammatory settings.

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.

CXCR5 encodes the receptor for CXCL13. This receptor helps guide B cells and certain T cells toward locations where organized immune responses develop.