This region represents the 5\' regulatory region of the cytochrome P450 family 7 subfamily A member 1 (CYP7A1) gene, and includes the proximal promoter as well as a regulatory element located in the first intron. The first intron also contains a putative scaffold/matrix attachment region that binds nuclear matrix, and also contains multiple DNase I hypersensitive sites. This promoter is stimulated by binding of hepatocyte nuclear factor and PPARG coactivator 1 alpha, and may be negatively regulated by peroxisome proliferator activated receptor alpha, vitamin D receptor, thyroid hormone, and signaling through transforming growth factor beta. A common polymorphism in this region (rs3808607) may affect promoter activity and has been associated with inter-individual differences in lipid levels. [provided by RefSeq, Jun 2017]
