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

Gene: MIR4713HG

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs2445752 in CYP19A1;MIR4713HG gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs121434534 in CYP19A1;MIR4713HG gene and Aromatase deficiency PMID 8530621 1995 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

PMID 24705274 2014 Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.

PMID 9211678 1997 Effect of testosterone and estradiol in a man with aromatase deficiency.

PMID 8265607 1993 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

rs146939415 in CYP19A1;MIR4713HG gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 23456168 2013 Genome-wide association study in Han Chinese identifies three novel loci for human height.

rs2414095 in CYP19A1;MIR4713HG gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs2899472 in CYP19A1;MIR4713HG gene and ESTRONE MEASUREMENT PMID 29325096 2018 Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men.

rs2414098 in CYP19A1;MIR4713HG gene and Endometrial Carcinoma PMID 27135401 2016 Five endometrial cancer risk loci identified through genome-wide association analysis.

rs2414095 in CYP19A1;MIR4713HG gene and Estradiol level result PMID 24049095 2013 Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.

rs2414095 in CYP19A1;MIR4713HG gene and Estradiol measurement PMID 24049095 2013 We identified a novel genetic region at 15q21.2 (rs2414095 in CYP19A1), which was significantly associated with oestradiol and FSH in the Chinese population at a genome-wide significant level (p=6.54×10(-31) and 1.59×10(-16), respectively).

rs2414095 in CYP19A1;MIR4713HG gene and Follicle stimulating hormone measurement PMID 24049095 2013 We identified a novel genetic region at 15q21.2 (rs2414095 in CYP19A1), which was significantly associated with oestradiol and FSH in the Chinese population at a genome-wide significant level (p=6.54×10(-31) and 1.59×10(-16), respectively).

rs3751599 in CYP19A1;MIR4713HG gene and Height PMID 23456168 2013 Genome-wide association study in Han Chinese identifies three novel loci for human height.