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Cytochrome b is comprised 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 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 for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
CYBA (Cytochrome B-245 Alpha Chain) is a Protein Coding gene. Diseases associated with CYBA include Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative and Chronic Granulomatous Disease. Among its related pathways are Signaling by GPCR and RHO GTPases Activate NADPH Oxidases. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and SH3 domain binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 3305576 |
GO:0009055 | electron transfer activity | IDA,TAS | 2243141 |
GO:0016175 | contributes_to superoxide-generating NADPH oxidase activity | IEA,IMP | 1763037 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0017124 | SH3 domain binding | IPI | 7938008 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | IEA | -- |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0001938 | positive regulation of endothelial cell proliferation | IEA | -- |
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
GO:0003106 | negative regulation of glomerular filtration by angiotensin | IEA | -- |
GO:0006801 | superoxide metabolic process | IEA,IMP | 1763037 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dextromethorphan | Approved | Pharma | Target, inhibitor | 166 | ||
Doxorubicin | Approved, Investigational | Pharma | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2029 | ||
Idarubicin | Approved | Pharma | 258 | |||
Simvastatin | Approved | Pharma | Inhibitor, Competitive | HMG-CoA reductase inhibitor | 582 | |
NADPH | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYBA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CYBA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyba 30 |
|
||
Dog (Canis familiaris) |
Mammalia | CYBA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cyba 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CYBA 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CYBA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CYBA 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CYBA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyba 30 |
|
||
Str.15394 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.5967 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cyba 30 31 |
|
OneToOne | |
zgc66077 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8225 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636575 | Pathogenic: not provided | 88,646,781(-) | G/C | NONSENSE | |
638954 | Uncertain Significance: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 88,643,466(-) | G/A | MISSENSE_VARIANT | |
642309 | Uncertain Significance: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 88,643,414(-) | G/A | MISSENSE_VARIANT | |
643066 | Uncertain Significance: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 88,650,948(-) | GCACT/G | SPLICE_DONOR_VARIANT | |
645632 | Uncertain Significance: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 88,647,105(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
|
|
chronic granulomatous disease |
|
|
granulomatous disease, chronic, autosomal dominant type |
|
|
diabetic polyneuropathy |
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i |
|
|