CYBB
Sign in to saveAlso known as AMCBX2, CGD, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
gen de la especie Homo sapiens
Gene data
CYBB- Name
- cytochrome b-245 beta chain
- Type
- protein-coding
- Chromosome
- X
- Position
- 37,780,018–37,816,994 (+)
- Aliases
- AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
- Ensembl
- ENSG00000165168
- RefSeq RNA
- NM_000397.4, XM_047441855.1, XM_054326527.1
- RefSeq protein
- NP_000388.2, XP_047297811.1, XP_054182502.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
cytochrome b-245 beta chain
- Symbol
- CYBB
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:37,780,018-37,816,994
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 68054
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1536
- chromosome
- human X chromosome
- genomic start
- 37780018
- genomic end
- 37672714
- cytogenetic location
- Xp21.1-p11.4
- expressed in
- decidua
- genetic association
- chronic granulomatous disease
via Wikidata · CC0