THE PURSER WELLNESS ENCYCLOPEDIA

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

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Gene referenceSep 23, 2026

VKORC1

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VKORC1 encodes vitamin K epoxide reductase, part of the vitamin K recycling system used in activating clotting proteins. It is not simply a vitamin K receptor. Also called: Vitamin K Epoxide Reductase Complex Subunit 1 Recycling vitamin K a…

Gene referenceSep 23, 2026

SLC19A1

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Encodes the reduced folate carrier, a protein involved in transporting folates into cells. Also called: RFC1, reduced folate carrier, folate transport Folate transport is part of the story Dr. Purser’s folate map includes transport as well …

Gene referenceSep 23, 2026

ALPL

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ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme important to bone and tooth mineralization and vitamin B6 metabolism. Persistently low alkaline phosphatase can deserve a different evaluation from a general nutrient deficienc…

Gene referenceSep 23, 2026

CD40LG

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CD40LG encodes CD40 ligand, which binds CD40 and supports communication needed for effective antibody responses. It is on the X chromosome, which changes how some genetic results must be interpreted. Also called: The ligand that helps acti…

Gene referenceSep 23, 2026

IL16

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IL16 encodes interleukin-16, a cytokine involved in attracting and influencing immune cells, including CD4-expressing cells. Its recruitment role helps separate it from other numbered interleukins. Also called: A cytokine involved in immun…

Gene referenceSep 23, 2026

IL17A

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IL17A encodes interleukin-17A, a cytokine involved in defense at tissue barriers and inflammatory signaling. It belongs to the Th17 pathway, which is supported by signals including IL-23. Also called: Th17 signaling and persistent inflamma…

Gene referenceSep 23, 2026

IL18

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IL18 encodes interleukin-18, a cytokine that can promote interferon-gamma responses in the appropriate immune context. Its receptor includes components encoded by IL18R1 and IL18RAP. Also called: An inflammatory signal that connects to int…

Gene referenceSep 23, 2026

IL18R1

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IL18R1 encodes a component of the receptor for IL-18. It works with an accessory component, IL18RAP, to support IL-18 signaling. Also called: The binding side of the IL-18 receptor IL18R1 encodes a component of the receptor for IL-18. It w…

Gene referenceSep 23, 2026

IL18RAP

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IL18RAP encodes an accessory protein in the IL-18 receptor complex. The receptor needs coordinated components to translate an extracellular signal into a cellular response. Also called: The accessory component of IL-18 signaling IL18RAP en…

Gene referenceSep 23, 2026

IL4

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IL4 encodes interleukin-4, a cytokine involved in Th2 immune responses and antibody class switching, including pathways related to IgE. It operates alongside IL-5 and IL-13 rather than representing all allergic biology by itself. Also calle…

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