信号通路: Steroid hormone biosynthesis;Tryptophan metabolism;Metabolism of xenobiotics by cytochrome P450;
功能: catalytic activity:RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O.,cofactor:Heme group.,disease:Defects in CYP1B1 are a cause of Peters anomaly [MIM:604229]. Peters anomaly is a congenital defect of the anterior chamber of the eye.,disease:Defects in CYP1B1 are a cause of primary open angle glaucoma (POAG) [MIM:137760]. POAG is a complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes.,disease:Defects in CYP1B1 are the cause of primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. GLC3A is an autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.,function:Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.,function:Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye development.,induction:By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD).,online information:CYP1B1 alleles,polymorphism:Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.,similarity:Belongs to the cytochrome P450 family.,tissue specificity:Expressed in many tissues.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endoplasmic reticulum membrane ; Peripheral membrane protein . Microsome membrane ; Peripheral membrane protein . Mitochondrion . Located primarily in endoplasmic reticulum. Upon treatment with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), CYP1B1 is also targeted to mitochondria. .
组织表达: Expressed in heart, brain, lung, skeletal muscle, kidney, spleen, thymus, prostate, testis, ovary, small intestine, colon, and peripheral blood leukocytes (PubMed:8175734). Expressed in retinal endothelial cells and umbilical vein endothelial cells (at protein level) (PubMed:19005183).
信号通路: Steroid hormone biosynthesis;Tryptophan metabolism;Metabolism of xenobiotics by cytochrome P450;
功能: catalytic activity:RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O.,cofactor:Heme group.,disease:Defects in CYP1B1 are a cause of Peters anomaly [MIM:604229]. Peters anomaly is a congenital defect of the anterior chamber of the eye.,disease:Defects in CYP1B1 are a cause of primary open angle glaucoma (POAG) [MIM:137760]. POAG is a complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes.,disease:Defects in CYP1B1 are the cause of primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. GLC3A is an autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.,function:Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.,function:Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye development.,induction:By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD).,online information:CYP1B1 alleles,polymorphism:Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.,similarity:Belongs to the cytochrome P450 family.,tissue specificity:Expressed in many tissues.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endoplasmic reticulum membrane ; Peripheral membrane protein . Microsome membrane ; Peripheral membrane protein . Mitochondrion . Located primarily in endoplasmic reticulum. Upon treatment with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), CYP1B1 is also targeted to mitochondria. .
组织表达: Expressed in heart, brain, lung, skeletal muscle, kidney, spleen, thymus, prostate, testis, ovary, small intestine, colon, and peripheral blood leukocytes (PubMed:8175734). Expressed in retinal endothelial cells and umbilical vein endothelial cells (at protein level) (PubMed:19005183).