HNF1B is a transcription factor that is important for the regulation of genes that play a role in organ development including the kidneys, liver and pancreas. Mutations or whole gene deletion cause ADTKD-HNF1B which is a dominantly inherited disorder. The mechanism of the disease is not well understood. A large number of genes regulated by HNF1B have been identified however it is not clear how these genes contribute to the different symptoms of the disorder. In additions, it is not well understood what causes the high variability of disease manifestation between patients. Due to the complicated disease mechanism of the disorder diagnosing patients is often difficult.
HNF1B