The pancreas/duodenum homeobox 1 (PDX1) protein,also known as IPF1 (insulin promoter factor 1), is a nuclear transcription factor that regulates pancreatic development and beta cell function by activating the expression of glucagon, INS, GLUT2, and GCK genes. Heterozygous mutations in the PDX1 gene lead to beta cell dysfunction and defective insulin secretion. PDX1-MODY is characterized by diabetes mellitus with variable age of onset (usually between 17and 67 years) compared to other MODY subtypes (PMID:33292863).
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