| Entrez Gene ID | 53630 |
|---|---|
| Official Gene Symbol | BCO1 (GeneCards) |
| Full name | beta-carotene oxygenase 1 |
| Location | 16q23.2 |
| Other ids | Vega : OTTHUMG00000137630 MIM : 605748 HGNC : HGNC:13815 Ensembl : ENSG00000135697 |
| Other names | BCO, BCDO, BCMO, BCDO1, BCMO1 |
| Summary | Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1187 | 53630 | BCO1 | 16 | 81295822 | 81295822 | Autism Spectrum Disorders | NextSeq500 v2 |
| 29195 | 53630 | BCO1 | 16 | 81295822 | 81295822 | Autism Spectrum Disorders | NextSeq500 v2 PASM |
| 29898 | 53630 | BCO1 | 16 | 81295822 | 81295822 | Autism Spectrum Disorders | NextSeq500 v2 PASM NextSeq500 |