PDX1 and Pancreatic Agenesis and Type 2 Diabetes

Abstract Pancreas duodenum homeobox-1 (PDX-1) is a pancreas-specific homeodomain transcription factor that regulates embryonic pancreas development, the expression of genes essential for glucose metabolism, and the differentiation, survival, and function of insulin-producing cells in the endocrine pancreas. Expression of PDX-1 is confined primarily to the developing embryonic pancreas and the adult pancreatic β cells, and PDX-1 function is essential for the proper development of both the endocrine and the exocrine pancreas and for normal metabolic function in the adult. Mutations in the PDX-1 gene are associated with multiple metabolic phenotypes in humans.