2024年12月24日 · CYBA (Cytochrome B-245 Alpha Chain) is a Protein Coding gene. Diseases associated with CYBA include Granulomatous Disease, Chronic, Autosomal Recessive, 4 and Chronic Granulomatous Disease. Among its related pathways are Signaling by Rho GTPases and Innate Immune System.

Cytochrome b-245 light chain is a protein that in humans is encoded by the CYBA gene involved in superoxide production and phagocytosis. [5] Cytochrome b-245 is composed of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit, which has been proposed as a primary component of the microbicidal oxidase system ...

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 …

2025年1月4日 · This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important ...

Results describe a genetic analysis on 12 Korean patients from 10 unrelated families and found that all patients had an identical homozygous single-base substitution in the CYBA gene. novel mutations of CYBA in autosomal recessive chronic granulomatous disease patients

This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important ...

P22 phox is a ubiquitous protein encoded by the CYBA gene located on the long arm of chromosome 16 at position 24, containing six exons and spanning 8.5 kb. P22 phox is a critical component of the superoxide-generating nicotinamide adenine dinucleotide phosphate (NADPH) oxidases (NOXs).

2019年2月19日 · The CYBA gene encodes the alpha subunit, also known as the light chain, of cytochrome b(-245), which is a component of the NADPH oxidase (NOX) complex responsible for the respiratory burst in phagocytes. The CYBB gene is an X-linked gene which encodes the cytochrome b beta subunit, also known as the heavy chain.

This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important ...

Gene/transcipt that contains an open reading frame (ORF). Protein coding. A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt.