| Symbol
| CYP1B1
| contributors: mct - updated : 15-10-2024
|
| HGNC name
| cytochrome P450, family 1, subfamily B, polypeptide 1
|
| HGNC id
| 2597
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
|
in high-grade PIN and in prostate cancer  | | tumoral
|
|
| --low
|
| |
by hypermethylation in colorectal cancer | | constitutional
|
|
| --over
|
| |
of CYP1A1 and CYP1B1 in ovarian/peritoneal endometriotic lesions | | tumoral
|
|
| --over
|
| |
in hormone-related cancers such as breast cancer, ovarian cancer, or prostate cancer compared to other cancers | | tumoral
|
|
| --over
|
| |
in breast cancer with poor prognosis | |
| Susceptibility
|
to the development of glaucoma (GLC1N), primary open angle glaucoma (PCG) to endometrial cancer to neonatal-onset (NO) primary congenital glaucoma |
| Variant & Polymorphism
SNP
, other
| combination of R368H and Myoc mutation correlates with earlier manifestation of GLC1A |
|
polymorphisms on exons 2 and 3 increasing the risk of endometrial cancer |
|
rs2567206 (T2805C) significantly associated with PCG ( |
|
heterozygous missens mutations with absent or reduced relative enzymatic activity could be a risk factor for primary open-angle glaucoma |
|
patients with CYP1B1 pathogenic variants had a poorer outcome in primary congenital glaucoma |
| 
|
| Candidate gene
| for Peters anomaly |
| Marker
| CYP4Z1 and CYP1B1 have the potential to be biomarkers or targets for novel anticancer therapy for bladder cancer. |
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| metabolism | lipid | | |
| therapeutic target for the treatment of metabolic diseases | | cancer | urinary | | |
| targets for novel anticancer therapy for bladder cancer | | cancer | reproductive | breast | |
| CYP1B1 inhibitors in combination with chemotherapeutic drugs may provide a novel targeted and effective approach to adjuvant or neoadjuvant therapy against certain forms of highly metastatic breast cancer |
| |
|
| Cyp1b1-/- mice have ocular drainage structure abnormalities resembling those reported in human PCG patients. In Cyp1b1-/- mice tyrosinase gene (Tyr) acts as a modifier of the drainage structure phenotype |