CYBA

SNP Table

variant	genotype	frequency	risk allele
rs1049254
rs4673
rs72558355
rs12123
rs4782393
rs7195384
rs12709102
rs2306422
rs3180279
rs3794624
rs7195830
rs1020792138
rs1032064165
rs11076687
rs114610092
rs11547387
rs1181233294
rs1207976536
rs1229140327
rs1277646913

37621 associated SNPs in total

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Summary GHR Function Frequently Asked Questions

Summary

This gene encodes a protein that is subunit of a group of proteins that forms an enzyme complex called NADPH oxidase, which plays an important role in the immune system. The complex adjust the inflammatory responses (R).

Protein names

cytochrome b-245 alpha chain [Source:HGNC Symbol;Acc:HGNC:2577]

GHR Function

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

chronic granulomatous disease More than 40 mutations in the CYBA gene have been found to cause chronic granulomatous disease. People with this disorder are at increased risk of developing recurrent episodes of infection and inflammation due to a weakened immune system. Mutations in the CYBA gene cause less than 5 percent of all cases of this condition. Most of these mutations change single building blocks of protein (amino acids) in the cytochrome b-245 alpha chain or cause it to be abnormally short and nonfunctional. An altered protein not only diminishes the function of the alpha chain, but the function of its beta chain partner as well. Without these subunits, NADPH oxidase cannot assemble or function properly. As a result, phagocytes are unable to produce reactive oxygen species to kill foreign invaders, and neutrophil activity is not regulated. A lack of NADPH oxidase leaves affected individuals vulnerable to many types of infection and excessive inflammation.

The CYBA gene provides instructions for making a protein called the cytochrome b-245 alpha chain (also known as p22-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. Within this complex, the cytochrome b-245 alpha chain has a beta chain partner (produced from the CYBB gene). Both alpha and beta chains are required for either to function, and the NADPH oxidase complex requires both chains in order to be functional. 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.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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