Gene Symbol | CYP1B1 |
Entrez Gene ID | 1545 |
Full Name | cytochrome P450 family 1 subfamily B member 1 |
Synonyms | ASGD6,CP1B,CYPIB1,GLC3A,P4501B1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3); Anterior segment dysgenesis 6, multiple subtypes, 617315 (3) |