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cytochrome P450, family 19, subfamily A, polypeptide 1
Identifiers
Symbol	CYP19A1 CYP19
HUGO	2594
Entrez	1588
OMIM	107910
RefSeq	NM_031226
UniProt	P11511
Other data
Locus	Chr. 15 q21

Aromatase is an enzyme of the cytochrome P450 superfamily(EC 1.14.14.1), whose function is to aromatize androgens (that is, to selectively increase their aromaticity), producing estrogens. As such, it is an important factor in sexual development.

Contents 1 Genomics 2 Cellular and Tissue Location 3 Activity 4 Disorders 4.1 Aromatase excess syndrome 4.2 Aromatase deficiency syndrome 5 Aromatase inhibitors 6 References 7 External links

In humans, the gene CYP19, located on chromosome 15q21.1, encodes the aromatase enzyme. CYP19 is present in an early-diverging chordate, the cephalochordate amphioxus (the Florida lancelet, Branchiostoma floridae), but not in the earlier diverging tunicate Ciona intestinalis. Thus the aromatase gene evolved early in chordate evolution and does not appear to be present in non-chordate invertebrates (e.g. insects, molluscs, echinoderms, sponges, corals). However, estrogens may be synthesized in some of these organisms, via unknown pathways.

The enzyme is located in the endoplasmic reticulum of the cell and its activity is regulated by tissue specific promoters that are in turn controlled by hormones, cytokines, and other factors. The principal action of the enzyme transforms androstenedione to estrone and testosterone to estradiol. The aromatase enzyme can be found in many tissues including gonads, brain, adipose tissue, placenta, blood vessels, skin, bone, endometrium as well as in tissue of endometriosis, uterine fibroids, breast cancer, and endometrial cancer.

Factors known to increase aromatase activity include age, obesity, insulin, gonadotropins, and alcohol. Aromatase activity is decreased by prolactin, AMH, and smoking. Aromatase activity appears to be enhanced in certain estrogen-dependent local tissue next to breast cancer, endometrial cancer, endometriosis, and uterine fibroids.

A number of investigators have reported on a rather rare syndrome of excess aromatase activity. In boys it can lead to gynecomastia and in girls to precocious puberty and gigantomastia. In both sexes, early epiphyseal closure leads to shortness.

This syndrome is due to a mutation of gene CYP19 and inherited in an autosomal recessive way. Accumulations of androgens during pregnancy may lead to virilization of a female at birth (males are not affected). Females will have primary amenorrhea. Individuals of both sexes will be tall as lack of estrogen does not bring the epiphyseal lines to closure.

The inhibition of the enzyme leads to profound hypoestrogenism (low estrogen levels). Thus aromatase inhibitors have become useful in the management of patients with breast cancer whose lesion was found to be estrogen receptor positive.

• Attar E, Bulun SE. Aromatase inhibitors: the next generation of therapeutics for endometriosis? Fertil Steril 2006;85:1307-18. PMID 16647373

• "U.S. study of gay sheep may shed light on sexuality", via WikiNews, 15 August 2005.