CYP1B1 Chromosome 2
Cytochrome P450 family 1 subfamily B member 1
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What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 1
Locus Type
gene with protein product
Location
2p22.2
Ensembl
ENSG00000138061
Associated Conditions (20)
Glaucoma 3A
Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6
Irido-corneo-trabecular dysgenesis
Ovarian serous cystadenocarcinoma
CYP1B1-related disorder
Inborn genetic diseases
Glaucoma 3
primary infantile
B
Sarcoma
CYP1B1-related glaucoma with or without anterior segment dysgenesis
Glaucoma
primary open angle
juvenile-onset
Anterior segment dysgenesis
Cataract 17 multiple types
Glaucoma of childhood
Congenital ocular coloboma
Key Variants
RS104893628
Conflicting classifications of pathogenicity
Glaucoma 3A, Primary congenital glaucoma, Congenital glaucoma
Health Risk
RS141245683
Conflicting classifications of pathogenicity
Congenital glaucoma, Glaucoma 3A, Irido-corneo-trabecular dysgenesis
Health Risk
RS1450783755
Conflicting classifications of pathogenicity
Congenital glaucoma, Glaucoma 3A, Congenital glaucoma
Health Risk
RS145847992
Conflicting classifications of pathogenicity
Congenital glaucoma, Ovarian serous cystadenocarcinoma, Congenital glaucoma
Health Risk
RS146770394
Conflicting classifications of pathogenicity
Congenital glaucoma, Irido-corneo-trabecular dysgenesis, Glaucoma 3A
Health Risk
RS148461905
Conflicting classifications of pathogenicity
Glaucoma 3A, Irido-corneo-trabecular dysgenesis, Congenital glaucoma
Health Risk
RS1682416281
Conflicting classifications of pathogenicity
Congenital glaucoma, Congenital glaucoma
Health Risk
RS1682512619
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 6, Glaucoma 3A, Anterior segment dysgenesis 6
Health Risk
RS201544164
Conflicting classifications of pathogenicity
Glaucoma 3A, Glaucoma 3, primary infantile
Health Risk
RS2465878993
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 6, Glaucoma 3A, Anterior segment dysgenesis 6
Health Risk
RS372321135
Conflicting classifications of pathogenicity
Congenital glaucoma, Inborn genetic diseases, Congenital glaucoma
Health Risk
RS375391843
Conflicting classifications of pathogenicity
Irido-corneo-trabecular dysgenesis, Glaucoma 3A, Congenital glaucoma
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS771076928 | Health Risk | Pathogenic | Congenital glaucoma, Glaucoma 3A, Anterior segment dysgenesis 6 |
| RS779730090 | Health Risk | Pathogenic | Primary congenital glaucoma, Anterior segment dysgenesis 6, Congenital glaucoma |
| RS780002791 | Health Risk | Pathogenic | Glaucoma 3A, Glaucoma 3A |
| RS893198212 | Health Risk | Pathogenic | Congenital glaucoma, Congenital glaucoma |
| RS1235928280 | Health Risk | Pathogenic/Likely pathogenic | Anterior segment dysgenesis 6, Congenital glaucoma, Anterior segment dysgenesis 6 |
| RS1248291721 | Health Risk | Pathogenic/Likely pathogenic | Congenital glaucoma, Anterior segment dysgenesis 6, Congenital glaucoma |
| RS148233007 | Health Risk | Pathogenic/Likely pathogenic | Glaucoma 3A, Primary congenital glaucoma, Glaucoma 3A |
| RS1682429616 | Health Risk | Pathogenic/Likely pathogenic | Anterior segment dysgenesis 6, Inborn genetic diseases, Anterior segment dysgenesis 6 |
| RS2465878545 | Health Risk | Pathogenic/Likely pathogenic | Congenital glaucoma, Anterior segment dysgenesis 6, Congenital glaucoma |
| RS2465884568 | Health Risk | Pathogenic/Likely pathogenic | Primary congenital glaucoma, Anterior segment dysgenesis 6, Primary congenital glaucoma |
| RS72480439 | Health Risk | Pathogenic/Likely pathogenic | Anterior segment dysgenesis 6, Congenital glaucoma, Primary congenital glaucoma |
| RS72549373 | Health Risk | Pathogenic/Likely pathogenic | Congenital glaucoma, Congenital glaucoma |
| RS753591839 | Health Risk | Pathogenic/Likely pathogenic | Anterior segment dysgenesis 6, Congenital glaucoma, Anterior segment dysgenesis 6 |
| RS757520959 | Health Risk | Pathogenic/Likely pathogenic | Primary congenital glaucoma, Congenital glaucoma, Primary congenital glaucoma |
| RS766425037 | Health Risk | Pathogenic/Likely pathogenic | Congenital glaucoma, Anterior segment dysgenesis 6, Glaucoma 3A |
| RS770799584 | Health Risk | Pathogenic/Likely pathogenic | Glaucoma 3A, Glaucoma 3A |
| RS777515179 | Health Risk | Pathogenic/Likely pathogenic | Congenital glaucoma, Anterior segment dysgenesis 6, Primary congenital glaucoma |
| RS778202993 | Health Risk | Pathogenic/Likely pathogenic | Congenital glaucoma, Anterior segment dysgenesis 6, Glaucoma 3A |
| RS903413018 | Health Risk | Pathogenic/Likely pathogenic | Congenital glaucoma, Anterior segment dysgenesis 6, Congenital glaucoma |
| RS985156509 | Health Risk | Pathogenic/Likely pathogenic | Anterior segment dysgenesis 6, Congenital glaucoma, Glaucoma 3A |