Gene: CYP19A1

Alternate names for this Gene: ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM

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. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.2

Description of this Gene: cytochrome P450 family 19 subfamily A member 1

Type of Gene: protein-coding

rs10519302 in CYP19A1 gene and Body Height PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

rs2445762 in CYP19A1 gene and Estradiol level result PMID 24049095 2013 Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.

rs2445762 in CYP19A1 gene and Estradiol measurement PMID 24049095 2013 Another single nucleotide polymorphism in CYP19A1 gene was significantly associated with oestradiol level (rs2445762, p=7.75×10(-28)).

rs2445762 in CYP19A1 gene and Follicle stimulating hormone measurement PMID 24049095 2013 Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.

rs1841128 in CYP19A1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.