4gl7 | pdb_00004gl7
From Proteopedia
Structure of human placental aromatase complexed with designed inhibitor HDDG046 (compound 5)
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Structural highlights
DiseaseCP19A_HUMAN 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:613546. 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.[1] [2] [3] FunctionCP19A_HUMAN Catalyzes the formation of aromatic C18 estrogens from C19 androgens. See AlsoReferences
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This page was last modified 11:32, 1 March 2024.