CYBA : cytochrome b-245 alpha chain
Description
The CYBA (cytochrome b-245 alpha chain) is a protein-coding gene located on chromosome 16.
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.
The CYBA gene encodes a protein called cytochrome b-245 alpha chain (CYBA), a crucial component of the NADPH oxidase complex found in phagocytes. This complex generates superoxide, a reactive oxygen species that is essential for killing invading bacteria and fungi. CYBA also associates with NOX3 to form a functional NADPH oxidase that constitutively produces superoxide.
CYBA is also known as CGD4, p22-PHOX.
Associated Diseases
- Chronic granulomatous disease
- GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
