CYBA - Cytochrome b-245 light chain - human protein (Medical)
 
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CYBA »  Cytochrome b-245 light chain
 
Protein also known as:  Superoxide-generating NADPH oxidase light chain subunit.
Gene name:  CYBA
Family name: P22phox
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 152 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Chronic granulomatous disease  379  
 

Keywords

Disease 
Chronic granulomatous disease  definition   [KW-0161]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 1535
MIM: 233690
PharmGKB: PA27075
Polymorphism databases
DMDM: 311033459
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.