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MGP000771

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 19, subfamily A, polypeptide 1
Protein EntryCP19A_HUMAN
UniProt IDP11511
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11511-1; Sequence=Displayed; Name=2; IsoId=P11511-2; Sequence=VSP_055583, VSP_055584; Note=No experimental confirmation available.;
Catalytic ActivityAndrost-4-ene-3,17-dione + 3 O(2) + 3 reduced flavoproteins = estrone + formate + 4 H(2)O + 3 oxidized flavoproteins.
Catalytic ActivityTestosterone + 3 O(2) + 3 reduced flavoproteins = 17-beta-estradiol + formate + 4 H(2)O + 3 oxidized flavoproteins.
CofactorName=heme; Xref=ChEBI:CHEBI:30413;
DiseaseAromatase deficiency (AROD) [MIM:613546]: 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. {ECO:0000269|PubMed:8265607, ECO:0000269|PubMed:8530621, ECO:0000269|PubMed:9211678}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseAromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the formation of aromatic C18 estrogens from C19 androgens.
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationMembrane; Peripheral membrane protein.
Tissue SpecificityBrain, placenta and gonads. {ECO:0000269|PubMed:2040633, ECO:0000269|PubMed:3018730, ECO:0000269|PubMed:7690033, ECO:0000269|PubMed:8117272}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp19a1/";
Web ResourceName=Wikipedia; Note=Aromatase entry; URL="http://en.wikipedia.org/wiki/Aromatase";
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