Gene
cybb
- ID
- ZDB-GENE-040426-1380
- Name
- cytochrome b-245, beta polypeptide (chronic granulomatous disease)
- Symbol
- cybb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have superoxide-generating NADPH oxidase activity. Predicted to be involved in defense response; oxidation-reduction process; and superoxide anion generation. Predicted to localize to NADPH oxidase complex. Human ortholog(s) of this gene implicated in X-linked chronic granulomatous disease; chronic granulomatous disease; and primary immunodeficiency disease. Is expressed in blood; nervous system; and neutrophil. Orthologous to human CYBB (cytochrome b-245 beta chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64144 (2 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| immunodeficiency 34 | Alliance | Immunodeficiency 34, mycobacteriosis, X-linked | 300645 |
| X-linked chronic granulomatous disease | Alliance | Chronic granulomatous disease, X-linked | 306400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR013112 | FAD-binding 8 |
| Domain | IPR013121 | Ferric reductase, NAD binding domain |
| Domain | IPR013130 | Ferric reductase transmembrane component-like domain |
| Domain | IPR017927 | FAD-binding domain, ferredoxin reductase-type |
| Family | IPR000778 | Cytochrome b245, heavy chain |
| Family | IPR050369 | Respiratory burst oxidase/Ferric reductase |
| Homologous_superfamily | IPR017938 | Riboflavin synthase-like beta-barrel |
| Homologous_superfamily | IPR039261 | Ferredoxin-NADP reductase (FNR), nucleotide-binding domain |
Domain Details Per Protein
| Protein | Length | Cytochrome b245, heavy chain | FAD-binding 8 | FAD-binding domain, ferredoxin reductase-type | Ferredoxin-NADP reductase (FNR), nucleotide-binding domain | Ferric reductase, NAD binding domain | Ferric reductase transmembrane component-like domain | Respiratory burst oxidase/Ferric reductase | Riboflavin synthase-like beta-barrel |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7T2A7
|
565 |
Interactions and Pathways
No data available
Plasmids
No data available