CYP1B1 Human Recombinant Protein

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]

CYP1B1: 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. Defects in CYP1B1 are the cause of primary congenital glaucoma type 3A (GLC3A). GLC3A is an autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, 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. Defects in CYP1B1 are a cause of primary open angle glaucoma (POAG). 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. Defects in CYP1B1 are a cause of Peters anomaly (PAN). Peters anomaly is a congenital defect of the anterior chamber of the eye. Belongs to the cytochrome P450 family.

Protein type: Xenobiotic Metabolism - metabolism by cytochrome P450; EC 1.14.14.1; Oxidoreductase; Amino Acid Metabolism - tryptophan

Chromosomal Location of Human Ortholog: 2p22.2

Cellular Component: endoplasmic reticulum membrane; mitochondrion

Molecular Function: iron ion binding; heme binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen; oxygen binding; monooxygenase activity

Biological Process: steroid metabolic process; estrogen metabolic process; retinal metabolic process; collagen fibril organization; positive regulation of apoptosis; response to toxin; positive regulation of JAK-STAT cascade; negative regulation of cell proliferation; visual perception; retinol metabolic process; arachidonic acid metabolic process; angiogenesis; cell adhesion; nitric oxide biosynthetic process; negative regulation of cell migration; negative regulation of cell adhesion mediated by integrin; epoxygenase P450 pathway; positive regulation of angiogenesis; inhibition of NF-kappaB transcription factor; toxin metabolic process; xenobiotic metabolic process; blood vessel morphogenesis; endothelial cell migration; aromatic compound metabolic process; membrane lipid catabolic process; induction of apoptosis by oxidative stress; sterol metabolic process

Disease: Peters Anomaly; Glaucoma 3, Primary Congenital, A; Glaucoma 3, Primary Infantile, B