Gene: CYP1B1

Alternate names for this Gene: ASGD6|CP1B|CYPIB1|GLC3A|P4501B1

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p22.2

Description of this Gene: cytochrome P450 family 1 subfamily B member 1

Type of Gene: protein-coding

Gene: CYP1B1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs104893628 in CYP1B1;CYP1B1-AS1 gene and GLAUCOMA 3, PRIMARY CONGENITAL, A PMID 15475877 2004 Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

PMID 16490498 2006 Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

PMID 16862072 2006 Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

PMID 10655546 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.

PMID 9497261 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.

PMID 15255109 2004 Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

PMID 18470941 2008 Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

PMID 12036985 2002 Molecular genetics of primary congenital glaucoma in Brazil.

PMID 14635112 2003 Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

PMID 16688110 2006 Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

PMID 11980847 2002 Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

PMID 12525557 2003 CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

PMID 11184479 2000 Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.

PMID 15342693 2004 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

PMID 9463332 1998 Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

PMID 11527932 2001 Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.

PMID 10227395 1999 Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

PMID 14640114 2003 Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.

PMID 16735994 2006 Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

PMID 11774072 2002 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

PMID 27243976 2016 Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

PMID 21850185 2011 Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

rs587778875 in CYP1B1;CYP1B1-AS1 gene and Glaucoma of childhood PMID 25950505 2015 Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.

PMID 25091052 2015 Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

PMID 9097971 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.

PMID 17591938 2007 CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

PMID 17164573 2007 Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.

PMID 19247456 2009 Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.

rs2855655 in CYP1B1;CYP1B1-AS1 gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.