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It regulates the expression of multiple genes in renal, pancreatic, hepatic, neurological, and genitourinary tissues during prenatal and postnatal development, influencing processes such as nephrogenesis, cellular polarity, tight junction formation, cilia development, ion transport in the renal tubule, and renal metabolism. Mutations that alter the function of Hnf1b deregulate those processes, leading to various pathologies characterized by both renal and extrarenal manifestations. The main renal diseases that develop are polycystic kidney disease, hypoplastic or dysplastic kidneys, structural abnormalities, Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), and electrolyte imbalances such as hyperuricemia and hypomagnesemia. Extrarenal manifestations include Maturity-Onset Diabetes of the Young (MODY), hypertransaminasemia, genital and urinary tract malformations, Autism Spectrum Disorder (ASD), and other neurodevelopmental disorders. Patients with HNF1B alterations typically carry either punctual mutations or a monoallelic microdeletion in the 17q12 region. Future research on the molecular mechanisms and genotype\u2013phenotype correlations in HNF1B-related conditions will enhance our understanding, leading to improved clinical management, genetic counseling, monitoring, and patient care.<\/jats:p>","DOI":"10.3390\/ijms251910609","type":"journal-article","created":{"date-parts":[[2024,10,2]],"date-time":"2024-10-02T03:57:08Z","timestamp":1727841428000},"page":"10609","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3767-5020","authenticated-orcid":false,"given":"Elo\u00edsa","family":"S\u00e1nchez-Cazorla","sequence":"first","affiliation":[{"name":"Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, No. 11, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Genomic Medicine Group, Clinical University Hospital (CHUS), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0739-0382","authenticated-orcid":false,"given":"Noa","family":"Carrera","sequence":"additional","affiliation":[{"name":"Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, No. 11, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Genomic Medicine Group, Clinical University Hospital (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"RICORS 2040 (Kidney Disease), ISCIII, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4330-7200","authenticated-orcid":false,"given":"Miguel \u00c1ngel","family":"Garc\u00eda-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, No. 11, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Genomic Medicine Group, Clinical University Hospital (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"RICORS 2040 (Kidney Disease), ISCIII, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,2]]},"reference":[{"key":"ref_1","unstructured":"(2024, May 23). 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