The hepatocyte nuclear factor 1 beta (HNF1B) protein, also known as transcription factor 2 (TCF2), is a member of the homeodomain-containing superfamily of nuclear transcription factors that regulates organogenesis of the pancreas, liver, genitourinary tract, kidney, intestine, and lungs. Heterozygous mutations cause beta cell dysfunction, hepatic insulin resistance, and a spectrum of congenital malformations termed renal cysts and diabetes (RCAD) syndrome. HNF1B-MODY exhibits variable multisystemic phenotypes characterized by a broad spectrum of pancreatic and extra-pancreatic clinical manifestations. Typically, renal disease occurs in childhood and diabetes mellitus arises in adolescence or early adulthood, with most affected individuals progressively requiring insulin (PMID:33292863).
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