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:

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

rs162332 in CYP1B1-AS1;CYP1B1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4670813 in CYP1B1-AS1;CYP1B1 gene and Cutaneous Melanoma PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs529769268 in CYP1B1-AS1;CYP1B1 gene and GLAUCOMA 3, PRIMARY CONGENITAL, A 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 15475877 2004 Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 22004014 2012 Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

PMID 19643970 2010 Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

PMID 11403040 2001 Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

rs72549387 in CYP1B1-AS1;CYP1B1 gene and Glaucoma of childhood PMID 11403040 2001 Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

PMID 22004014 2012 Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

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

PMID 23922489 2013 Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

PMID 24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

PMID 27820421 2016 CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

PMID 19643970 2010 Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

PMID 23218701 2013 CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

PMID 12372064 2002 A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.

PMID 27777502 2016 Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

PMID 19234632 2009 CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

PMID 27272408 2016 Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

rs4670813 in CYP1B1-AS1;CYP1B1 gene and Malignant melanoma of skin of lower limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs4670813 in CYP1B1-AS1;CYP1B1 gene and Malignant melanoma of skin of upper limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.