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Human CYP19A1 wild-type allele is located in the vicinity of 15q21.1 and is approximately 114 kb in length. This allele, which encodes cytochrome P450 19A1 protein, is involved in the biosynthesis of estrogen. Certain allelic variants of the CYP19A1 gene exhibit functional mutations that result in enhanced aromatase activity which, in turn, causes familial gynecomastia.
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