3s79 | pdb_00003s79
From Proteopedia
Human placental aromatase cytochrome P450 (CYP19A1) refined at 2.75 angstrom
| ||||||||||||
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
| ||||||||||||||||||||
This page was last modified 12:48, 14 March 2024.