Type-I protein-C deficiency caused by disruption of a hepatocyte nuclear factor (HNF)-6/HNF-1 binding site in the human protein-C gene promoter.

The level and tissue specificity of eukaryotic gene transcription is determined by the binding of specific transcription factors to DNA sequence elements located around the transcription start site. The availability and activity of specific transcription factors depends on a variety of developmental and environmental cues and, therefore, varies from cell type to cell type. For instance, liver tissue, the principal site of expression of the coagulation inhibitor protein C, expresses a heterogeneous group of transcription factors called hepatocyte nuclear factors (HNFs). Some of these HNFs are essential players in protein-C gene expression. This review discusses the significance of HNF-1 and HNF-6 in regulating the transcription of the protein-C gene and gives directions for future research.