This region represents the promoter of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene. This promoter is induced by cyclic AMP and is regulated by binding of nuclear factor I, nuclear receptor subfamily 5 group A family members (e.g. Sf1/Lrh1), Sp1/3 transcription factors, and GATA binding proteins to defined recognition sites in this sequence. Signaling through transforming growth factor beta inhibits promoter activity. A polymorphism in the proximal promoter region (rs140012815) has been implicated by some studies in the risk of several reproductive hormone-related conditions, including polycystic ovarian syndrome and prostate cancer; however, these genetic associations were not confirmed in other studies or metastudies. [provided by RefSeq, Jun 2017]
