BCO2 beta-carotene oxygenase 2
Gene ID: 83875, updated on 17-Sep-2024Gene type: protein coding
Also known as: BCDO2; B-DIOX-II
- See all available tests in GTR for this gene
- Go to complete Gene record for BCO2
- Go to Variation Viewer for BCO2 variants
Summary
This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
| Genome-wide association study identifies variants at the IL18-BCO2 locus associated with interleukin-18 levels. GeneReviews: Not available | |
| Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults. GeneReviews: Not available |
Genomic context
- Location:
- 11q23.1
- Sequence:
- Chromosome: 11; NC_000011.10 (112175512..112218946)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCO2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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