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NCF2
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs75043422 | |||
| rs2274064 | |||
| rs12094036 | |||
| rs34459587 | |||
| rs35423398 | |||
| rs35667872 | |||
| rs35550074 | |||
| rs35832000 | |||
| rs2767314 | |||
| rs1241822454 | |||
| rs2333684 | |||
| rs59326923 | |||
| rs2767307 | |||
| rs3754515 | |||
| rs112504363 | |||
| rs11273052 | |||
| rs17849502 | |||
| rs789182 | |||
| rs789183 | |||
| rs2702177 |
Find on This Page
Summary
The NCF2 gene codes for NADPH (neutrophil cytosolic factor 2) oxidase, an enzyme that helps maintain a healthy immune response.
Specific NCF2 variants correlate with lower NADPH oxidase activity and higher lupus rates. Variants may also cause chronic granulomatous disease [R].
Protein names
Found in These Blog Articles
GHR Function
The NCF2 gene provides instructions for making a protein called neutrophil cytosolic factor 2 (also known as p67-phox). This protein is one part (subunit) of a group of proteins that forms an enzyme complex called NADPH oxidase, which plays an essential role in the immune system. Specifically, NADPH oxidase is primarily active in immune system cells called phagocytes. These cells catch and destroy foreign invaders such as bacteria and fungi. NADPH oxidase is also thought to regulate the activity of immune cells called neutrophils. These cells play a role in adjusting the inflammatory response to optimize healing and reduce injury to the body.
The presence of foreign invaders stimulates phagocytes and triggers the assembly of NADPH oxidase. This enzyme participates in a chemical reaction that converts oxygen to a toxic molecule called superoxide. Superoxide is used to generate several other compounds, including hydrogen peroxide (a strong disinfectant) and hypochlorous acid (the active ingredient in bleach). These highly reactive, toxic substances are known as reactive oxygen species. Phagocytes use these substances to kill foreign invaders, preventing them from reproducing in the body and causing illness.
More Information
The NCF2 gene helps make NADPH oxidase (NADPHO or NOX). This enzyme turns NADPH into NADP+ and creates reactive oxygen species (ROS). Although ROS are typically associated with oxidative stress, they are essential in certain amounts to kill microbes and control the cell’s life cycle [R, R].
NADPHO-deficient mice develop severe lupus. According to research, the lack of ROS impairs the removal of microbes and damaged cells, which then creates toxic waste and contributes to autoimmunity [R].
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