Hepatocyte nuclear factor 1-beta (HNF1B)

Hepatocyte nuclear factor 1-beta (HNF1B) is a transcription factor in the homeodomain-containing protein family, essential for the regulation of gene expression in multiple organs including the kidneys, pancreas, liver, and urinary and genital tracts[2][3][4][6]. HNF1B binds DNA as a homodimer or heterodimer and regulates genes crucial to organ development and function[2][3][4]. Mutations in HNF1B are associated with autosomal dominant monogenic diabetes (MODY5), renal cysts and diabetes syndrome (RCAD), and congenital kidney/urinary tract anomalies (CAKUT)[3][4]. Besides its developmental roles, HNF1B dysfunction can alter insulin secretion and nephron development, and has been linked to certain cancers, e.g. prostate cancer[3]. As a transcription factor, it is not directly targeted by current medicines, but its mutation status is an important biomarker for clinical diagnosis, genetic counseling, and patient management in related syndromes[3][4].

Other names

HNF1 homeobox BHNF-1-betaHNF-1BTCF2TCF-2transcription factor 2MODY5VHNF1LFB3HNF1 beta Ahomeoprotein LFB3HPC11LF-B3RCADFJHN

Not a direct drug target; gene mutations affect regulatory pathways for insulin and renal function