CYBA cytochrome b-245 alpha chain
Gene ID: 1535, updated on 17-Jun-2024Gene type: protein coding
Also known as: CGD4; p22-PHOX
- See all available tests in GTR for this gene
- Go to complete Gene record for CYBA
- Go to Variation Viewer for CYBA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | See labs |
| Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. GeneReviews: Not available |
Genomic context
- Location:
- 16q24.2
- Sequence:
- Chromosome: 16; NC_000016.10 (88643289..88651053, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYBA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CYBA database
- CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.