HNF4A (also known as TCF14) is a member of the steroid-thyroid hormone receptor superfamily. HNF4A interacts with regulatory elements in promoters and enhancers of the genes involved in cholesterol fatty acid and glucose metabolism [, ]. It is an upstream regulator of HNF1A expression []. HNF4A regulates the expression of genes in the liver, pancreas, kidney, intestine, and other tissues. It is essential for development of the liver [, ]and regulates growth and function of islet beta-cells in the pancreas [, ]. Mutations in the HFN4A gene result in type 1 MODY (MODY1), a monogenic form of non-insulin-dependent type 2 diabetes [, ]. HNF4A is also involved in circadian rhythm maintenance in liver and colon cells as it transrepresses CLOCK:BMAL1 heterodimer activity [].
