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  • Human PDX1 wild-type allele is located in the vicinity of 13q12.1 and is approximately 6 kb in length. This allele, which encodes pancreas/duodenum homeobox protein 1, is involved in transcriptional regulation of insulin and other pancreatic genes. Mutation of the gene is associated with pancreatic agenesis, susceptibility to early-onset insulin-dependent diabetes mellitus, and maturity onset diabetes of the young type 4.
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