Pdx1 gene

The PDX1 gene is located on the long arm of chromosome 13 (13q12.2) and encodes the transcription factor Pdx1, which plays a crucial role in the development and function of the pancreas and in the maturation of pancreatic beta cells. In mature pancreatic cells, Pdx1 expression appears to be of great importance for the survival of β-cells. Furthermore, Pdx1 plays an important role in the maturation of the dodenum. Remarkably, gastric cancer cells lose Pdx1 expression and this protein is thought to be a tumor suppressor.

Mutations in the PDX1 gene lead to a pathologically reduced insulin production and to the clinical picture of "Maturity Onset Diabetes of the Young Type 4" (OMIM:606392) - MODY 4. The inheritance of MODY 4 is autosomal dominant, the penetrance is very high with about 80-90%.