CYP1B1 cytochrome P450 family 1 subfamily B member 1

Gene ID: 1545, updated on 7-Apr-2024
Gene type: protein coding
Also known as: CP1B; ASGD6; GLC3A; CYPIB1; P4501B1

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Anterior segment dysgenesis 6 MedGen: C4310623OMIM: 617315GeneReviews: Not available	See labs
Glaucoma 3, primary infantile, B MedGen: C1832977OMIM: 600975GeneReviews: Primary Congenital Glaucoma	See labs
Glaucoma 3A MedGen: C1856439OMIM: 231300GeneReviews: Primary Congenital Glaucoma	See labs

Genomic context

Location:: 2p22.2

Sequence:: Chromosome: 2; NC_000002.12 (38067509..38076151, complement)

Total number of exons:: 3

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CYP1B1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
CYP1B1 database
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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