HNF1B (Hepatocyte Nuclear Factor 1 Beta) is a transcription factor encoded by the *HNF1B* gene, crucial in embryonic development and tissue-specific gene regulation. It plays a key role in the formation of organs such as the kidneys, pancreas, liver, and genital tract. Mutations in *HNF1B* are linked to autosomal dominant disorders like renal cysts and diabetes syndrome (RCAD), characterized by kidney abnormalities, maturity-onset diabetes of the young (MODY), and pancreatic dysfunction.
Antibodies targeting HNF1B are primarily used in research and diagnostics to study its expression, localization, and functional roles. In research, these antibodies help identify HNF1B protein levels in tissues, aiding investigations into developmental biology and disease mechanisms. Clinically, they support the diagnosis of HNF1B-related disorders through immunohistochemistry or Western blotting of patient samples.
HNF1B antibodies also contribute to understanding cancer biology, as aberrant HNF1B expression is observed in certain cancers (e.g., ovarian, clear cell renal carcinoma). Their specificity and reliability are critical for distinguishing HNF1B from homologous proteins like HNF1A. While primarily tools for basic and translational research, these antibodies hold potential as biomarkers for personalized therapies targeting HNF1B-associated pathways.
Overall, HNF1B antibodies bridge molecular insights with clinical applications, enhancing our grasp of developmental disorders and their therapeutic avenues.