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MitoProteome Human Mitochondrial Protein Database
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Related Proteins
MT000161
UniProt Annotations
Entry Information
Gene Name
cytochrome b-245, beta polypeptide
Protein Entry
CY24B_HUMAN
UniProt ID
P04839
Species
Human
Comments
Comment type
Description
Cofactor
Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000305};
Disease
Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]: 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. {ECO:0000269|PubMed:10089913, ECO:0000269|PubMed:10914676, ECO:0000269|PubMed:11462241, ECO:0000269|PubMed:11997083, ECO:0000269|PubMed:12139950, ECO:0000269|PubMed:1710153, ECO:0000269|PubMed:18773283, ECO:0000269|PubMed:22125116, ECO:0000269|PubMed:23910690, ECO:0000269|PubMed:2556453, ECO:0000269|PubMed:7927345, ECO:0000269|PubMed:8101486, ECO:0000269|PubMed:8182143, ECO:0000269|PubMed:8916969, ECO:0000269|PubMed:9111587, ECO:0000269|PubMed:9585602, ECO:0000269|PubMed:9667376, ECO:0000269|PubMed:9794433, ECO:0000269|PubMed:9856476, ECO:0000269|PubMed:9888386}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease
Immunodeficiency 34 (IMD34) [MIM:300645]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. {ECO:0000269|PubMed:21278736}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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.
Ptm
Glycosylated. {ECO:0000269|PubMed:19159218}.
Ptm
Phosphorylated on Ser and Thr residues. {ECO:0000269|PubMed:19028840}.
Sequence Caution
Sequence=CAA27635.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA29327.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity
Contains 1 FAD-binding FR-type domain. {ECO:0000255|PROSITE-ProRule:PRU00716}.
Similarity
Contains 1 ferric oxidoreductase domain. {ECO:0000305}.
Subcellular Location
Cell membrane; Multi-pass membrane protein.
Subunit
Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1. Interacts with calprotectin (S100A8/9). Interacts with NRROS; the interaction is direct and impairs formation of a stable NADPH oxidase complex. {ECO:0000269|PubMed:19028840, ECO:0000269|PubMed:3600769, ECO:0000269|PubMed:9224653}.
Tissue Specificity
Detected in neutrophils (at protein level). {ECO:0000269|PubMed:19028840}.
Web Resource
Name=CYBBbase; Note=CYBB deficiency database; URL="http://bioinf.uta.fi/CYBBbase/";
Web Resource
Name=Mendelian genes cytochrome b-245, beta polypeptide (CYBB); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/CYBB";
MitoProteome Human Mitochondrial Protein Database
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