4kq8

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Template:STRUCTURE 4kq8

Contents 1 Structure of Recombinant Human Cytochrome P450 Aromatase 2 Disease 3 Function 4 About this Structure 5 Reference

Structure of Recombinant Human Cytochrome P450 Aromatase

Template:ABSTRACT PUBMED 23899247

Disease

[CP19A_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]}

Function

[CP19A_HUMAN] Catalyzes the formation of aromatic C18 estrogens from C19 androgens.

About this Structure

4kq8 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

• Lo J, Di Nardo G, Griswold J, Egbuta C, Jiang W, Gilardi G, Ghosh D. Structural Basis for the Functional Roles of Critical Residues in Human Cytochrome P450 Aromatase. Biochemistry. 2013 Aug 16. PMID:23899247 doi:10.1021/bi400669h

1. ↑ Ito Y, Fisher CR, Conte FA, Grumbach MM, Simpson ER. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc Natl Acad Sci U S A. 1993 Dec 15;90(24):11673-7. PMID:8265607
2. ↑ Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab. 1995 Dec;80(12):3689-98. PMID:8530621
3. ↑ Carani C, Qin K, Simoni M, Faustini-Fustini M, Serpente S, Boyd J, Korach KS, Simpson ER. Effect of testosterone and estradiol in a man with aromatase deficiency. N Engl J Med. 1997 Jul 10;337(2):91-5. PMID:9211678 doi:10.1056/NEJM199707103370204