Hepatocyte nuclear factor 1-beta (UniProt P35680; also known as HNF-1-beta, HNF-1B, Homeoprotein LFB3, TCF-2, Transcription factor 2, Variant hepatic nuclear factor 1, vHNF1) is encoded by the HNF1B (also known as TCF2, VHNF1) gene (Gene ID 6928) in human. HNF-1-beta is involved in transcriptional and functional regulation of the liver and biliary system, as well as of the kidneys, urogenital tract and pancreatic beta-cells. HNF-1-beta deficiency due to HNF1B mutations is a well known cause of maturity-onset diabetes of the young 5 (MODY5), also referred to as RCAD (renal cysts and diabetes) due to the frequent co-occurrence of renal cysts and/or other inborn urogenital abnormalities. HNF-1-beta is expressed in the gall bladder, liver and intrahepatic bile ducts of mouse embryos and in liver of adult mice. HNF-1-beta is shown to co-regulate morphogenesis of the biliary system and HNF1B knockout mice suffer from severe neonatal cholestasis and jaundice due to the abnormally developed gall bladder and dysfunctional intrahepatic bile ducts.
Synonyms: Hepatocyte nuclear factor 1-beta, HNF-1B, HNF-1-beta, Homeoprotein LFB3, Transcription factor 2, TCF-2, Variant hepatic nuclear factor 1, vHNF1
Application: Research Sub CategoryNuclear Receptors
Other Notes: Concentration: Please refer to lot specific datasheet.