CYBB

Gene Information
 
Gene Symbol
CYBB
 
Aliases
AMCBX2, CGD, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
 
Entrez Gene ID
 
Gene Name
Cytochrome b-245 beta chain
 
Chromosomal Location
Xp21.1-p11.4
 
HGNC ID
 
Summary
Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006801 Biological process Superoxide metabolic process IDA 12042318
GO:0006801 Biological process Superoxide metabolic process TAS 12716910
GO:0006952 Biological process Defense response IBA 21873635
GO:0042554 Biological process Superoxide anion generation IBA 21873635
GO:0042554 Biological process Superoxide anion generation IDA 12042318
Protein Information
 
Protein Name
Cytochrome b-245 heavy chain, CGD91-phox, NADPH oxidase 2, cytochrome b(558) subunit beta, cytochrome b-245 beta polypeptide, cytochrome b558 subunit beta, heme-binding membrane glycoprotein gp91phox, neutrophil cytochrome b 91 kDa polypeptide, p22 phagocyte B-cytochrome, superoxide-generating NADPH oxidase heavy chain subunit
 
Function
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF08022 FAD_binding_8
PF01794 Ferric_reduct
PF08030 NAD_binding_6
Pathways
 
KEGG
 
Reactome
 

HIF-1 signaling pathway
Phagosome
Ferroptosis
Necroptosis
NOD-like receptor signaling pathway
Leukocyte transendothelial migration
AGE-RAGE signaling pathway in diabetic complications
Leishmaniasis

 

ROS and RNS production in phagocytes
Cross-presentation of particulate exogenous antigens (phagosomes)
Detoxification of Reactive Oxygen Species
VEGFA-VEGFR2 Pathway
RHO GTPases Activate NADPH Oxidases
Neutrophil degranulation

     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Hypertensive disease
Myocardial Failure
Heart Failure
Endocrine System Diseases
Diabetes Mellitus
PCOS
References
 

Oxidative stress in granulosa cells contributes to poor oocyte quality and IVF-ET outcomes in women with polycystic ovary syndrome.

Lai Qiaohong, Xiang Wenpei, Li Qing, Zhang Hanwang, Li Yufeng, Zhu Guijin, Xiong Chengliang, Jin Lei
Reproductive Medicine Center, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, 430030, China. lqh74@126.com.| Family Planning Research Institute, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.| Reproductive Medicine Center, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, 430030, China.| Reproductive Medicine Center, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, 430030, China.| Reproductive Medicine Center, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, 430030, China.| Reproductive Medicine Center, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, 430030, China.| Family Planning Research Institute, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.| Reproductive Medicine Center, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, 430030, China. ljin@tjh.tjmu.edu.cn.
Front Med. 2018 Oct;12(5):518-524. doi: 10.1007/s11684-017-0575-y. Epub 2017 Dec

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