Cytochrome P450, family 19, subfamily A, polypeptide 1
Cytochrome P450, subfamily XIX (aromatization of androgens)
Flavoprotein linked monooxygenase
功能Catalyzes the formation of aromatic C18 estrogens from C19 androgens.
组织特异性Brain, placenta and gonads.
疾病相关Defects in CYP19A1 are a cause of aromatase excess syndrome (AEXS) [MIM:139300]; also known as familial gynecomastia. AEXS is characterized by an estrogen excess due to an increased aromatase activity. Defects in CYP19A1 are the cause of aromatase deficiency (AROD) [MIM:107910]. AROD is a rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.