4kq8: Difference between revisions
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{{STRUCTURE_4kq8| PDB=4kq8 | SCENE= }} | |||
===Structure of Recombinant Human Cytochrome P450 Aromatase=== | |||
{{ABSTRACT_PUBMED_23899247}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/CP19A_HUMAN CP19A_HUMAN]] Defects in CYP19A1 are a cause of aromatase excess syndrome (AEXS) [MIM:[http://omim.org/entry/139300 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:[http://omim.org/entry/613546 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.<ref>PMID:8265607</ref> <ref>PMID:8530621</ref> <ref>PMID:9211678</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CP19A_HUMAN CP19A_HUMAN]] Catalyzes the formation of aromatic C18 estrogens from C19 androgens. | |||
==About this Structure== | |||
[[4kq8]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4KQ8 OCA]. | |||
==Reference== | |||
<ref group="xtra">PMID:023899247</ref><references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | |||
[[Category: Unspecific monooxygenase]] | |||
[[Category: Ghosh, D.]] | |||
[[Category: Griswold, J.]] | |||
[[Category: Nardo, G Di.]] | |||
[[Category: Androgen]] | |||
[[Category: Aromatase]] | |||
[[Category: Cytochrome p450]] | |||
[[Category: Cytochrome p450 reductase]] | |||
[[Category: Estrogen]] | |||
[[Category: Estrogen synthetase]] | |||
[[Category: Oxidoreductase]] | |||