For example, the creation of a new uORF was observed in the SPINK1 gene. This gene encodes a trypsin inhibitor, Serine Peptidase Inhibitor, Kazal Type 1, that prevents the activation of zymogens within the pancreas.30 A mutation (C>T) at position -53 to the main AUG start codon generates a new AUG start codon and a uORF that dampens the efficiency of Spink1 translation, leading to hereditary pancreatitis.
