Gene: MIR4713HG

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs12907866 in MIR4713HG;CYP19A1 gene and Age at menarche PMID 23599027 2013 Genome-wide association study of age at menarche in African-American women.

rs78310315 in MIR4713HG;CYP19A1 gene and Aromatase deficiency 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 8265607 1993 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

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

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

rs16964211 in MIR4713HG;CYP19A1 gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17601876 in MIR4713HG;CYP19A1 gene and Endometrial Carcinoma PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs12591359 in MIR4713HG;CYP19A1 gene and Estradiol level result PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs12591359 in MIR4713HG;CYP19A1 gene and Estradiol measurement PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs16964211 in MIR4713HG;CYP19A1 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.