The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β). This protein attaches (binds) to specific regions of DNA and regulates the activity of other genes.

Hepatocyte nuclear factor 1 beta (HNF1 β/B) exists as a homeobox transcription factor having a vital role in the embryonic development of organs mainly liver, kidney and pancreas.

2024年12月25日 · HNF1B (HNF1 Homeobox B) is a Protein Coding gene. Diseases associated with HNF1B include Renal Cysts And Diabetes Syndrome and Type 2 Diabetes Mellitus. Among its related pathways are Regulation of beta-cell development and ERK Signaling.

In this review, we aimed to describe the multifaceted nature of HNF1B deficiency in the pediatric and adult populations: we analyzed the genetic, phenotypic, and clinical features of this complex and misdiagnosed syndrome, covering the most frequent, unusual, and recently identified traits.

2014年12月23日 · Here, the authors analyse the clinical phenotypes, the spectrum of causative heterozygous HNF1B mutations, discuss the molecular pathways by which HNF1B might contribute to renal pathologies,...

HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene. HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of the homeobox -containing basic helix-turn-helix family.

Hepatocyte nuclear factor-1β (HNF-1β) is an essential transcription factor that regulates the development and function of epithelia in the kidney, liver, pancreas, and genitourinary tract. Humans who carry HNF1B mutations develop heterogeneous renal ...

2011年10月1日 · HNF1B is a developmental gene coding for hepatocyte nuclear factor 1 homeobox B, a transcription factor first isolated in human hepatocytes. 1 During murine development and in adult mice, Hnf1b has tissue-specific expression in polarized epithelia of the pancreas, liver, renal, and genital tracts. 2., 3., 4.

Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformations. HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observatio …

Hepatocyte nuclear factor-1-beta (HNF1B), also known as transcription factor-2 (TCF2), is a member of the homeodomain-containing superfamily of transcription factors (Bach et al., 1991). Early expression of TCF2 is seen in the kidney, liver, …