CYBC1 cytochrome b-245 chaperone 1
Gene ID: 79415, updated on 2-Nov-2024Gene type: protein coding
Also known as: CGD5; Eros; C17orf62
- See all available tests in GTR for this gene
- Go to complete Gene record for CYBC1
- Go to Variation Viewer for CYBC1 variants
Summary
Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in autosomal recessive chronic granulomatous disease 5. [provided by Alliance of Genome Resources, Nov 2024]
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 Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region. GeneReviews: Not available | |
| Granulomatous disease, chronic, autosomal recessive, 5 | not available |
Genomic context
- Location:
- 17q25.3
- Sequence:
- Chromosome: 17; NC_000017.11 (82442586..82450752, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYBC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- 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
- Variation ViewerRelated Variants
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