Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cytochrome P450, family 1, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. Mutations in this gene have been associated with autosomal recessive ocular disorders such as primary open angle congenital glaucoma type 3A and Peters anomaly.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Open angle glaucoma 3A



Libby RT et al. (2003) Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.


Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.


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.


Bejjani BA et al. (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.


Plásilová M et al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.


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.


Melki R et al. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.


Sivadorai P et al. (2008) Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.


Hanna IH et al. (2000) Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity.


Vincent A et al. (2001) Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.


Ming JE et al. (2002) Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.


Tsuchiya Y et al. (2006) MicroRNA regulates the expression of human cytochrome P450 1B1.


Chavarria-Soley G et al. (2008) Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.


Schwartzman ML et al. (1987) 12(R)-hydroxyicosatetraenoic acid: a cytochrome-P450-dependent arachidonate metabolite that inhibits Na+,K+-ATPase in the cornea.


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.


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.


Orphanet article

Orphanet ID 120977 [^]

NCBI article

NCBI 1545 [^]

OMIM.ORG article

Omim 601771 [^]

Wikipedia article

Wikipedia EN (CYP1B1) [^]
Update: April 29, 2019