CYBB cytochrome b-245 beta chain

Gene ID: 1536, updated on 10-Oct-2024
Gene type: protein coding
Also known as: CGD; CGDX; NOX2; IMD34; AMCBX2; GP91-1; GP91PHOX; p91-PHOX; GP91-PHOX

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Granulomatous disease, chronic, X-linked MedGen: C1844376OMIM: 306400GeneReviews: Chronic Granulomatous Disease	See labs
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MedGen: C1970859OMIM: 300645GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-05-27) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-05-27) ClinGen Genome Curation Page

Genomic context

Location:: Xp21.1-p11.4

Sequence:: Chromosome: X; NC_000023.11 (37780059..37813461)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CYBB variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

Catalogue of Somatic Mutations in Cancer (COSMIC)
ClinVar
Related medical variations
CYBB database
CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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