Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79415
MIM: 618334
HGNC: 28672
Ensembl: ENSG00000178927
Variants:
dbSNP: 79415
ClinVar: 79415
TCGA: ENSG00000178927
COSMIC: CYBC1
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34280579 | 2021 | HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function. | 1 |
| 34280579 | 2021 | HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function. | 1 |
| 31862710 | 2020 | Functional Expression of the P2X7 ATP Receptor Requires Eros. | 7 |
| 31862710 | 2020 | Functional Expression of the P2X7 ATP Receptor Requires Eros. | 7 |
| 30312704 | 2019 | EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. | 29 |
| 30312704 | 2019 | EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. | 29 |
| 30361506 | 2018 | A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. | 42 |
| 30361506 | 2018 | A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. | 42 |
Citation
Dessen P
CYBC1 (cytochrome b-245 chaperone 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/80495/cybc1-(cytochrome-b-245-chaperone-1)
