Scientific background:

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]

Methodology:

Literature: 

Bejjani BA et al. (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
Bejjani BA et al. (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Belmouden A et al. (2002) A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.
Chavarria-Soley G et al. (2008) Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
Hanna IH et al. (2000) Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity.
Libby RT et al. (2003) Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.
Melki R et al. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
Ming JE et al. (2002) Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
Plásilová M et al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
Schwartzman ML et al. (1987) 12(R)-hydroxyicosatetraenoic acid: a cytochrome-P450-dependent arachidonate metabolite that inhibits Na+,K+-ATPase in the cornea.
Sivadorai P et al. (2008) Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
Stoilov I et al. (1998) Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.
Stoilov I et al. (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.
Sutter TR et al. (1994) Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.
Tang YM et al. (1996) Isolation and characterization of the human cytochrome P450 CYP1B1 gene.
Tsuchiya Y et al. (2006) MicroRNA regulates the expression of human cytochrome P450 1B1.
Vincent A et al. (2001) Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.