HNF-1α is a transcription factor expressed in organs of endoderm origin, including liver, kidneys, pancreas, intestines, stomach, spleen, thymus, testis, and keratinocytes and melanocytes in human skin. [16] . It has been shown to affect intestinal epithelial cell growth and …

2024年12月25日 · HNF1A (HNF1 Homeobox A) is a Protein Coding gene. Diseases associated with HNF1A include Maturity-Onset Diabetes Of The Young, Type 3 and Type 1 Diabetes Mellitus 20. Among its related pathways are ERK Signaling and Regulation of beta-cell development.

The HNF1A gene provides instructions for making a protein called hepatocyte nuclear factor-1 alpha (HNF-1α). The HNF-1α protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

HNF1A mutations cause a monogenic form of diabetes called maturity-onset diabetes of the young (MODY), and HNF1A single-nucleotide polymorphisms are associated with the development of type 2 diabetes.

2024年6月22日 · HNF4A and HNF1A encode transcription factors that are important for the development and function of the pancreas and liver. Mutations in both genes have been directly linked to Maturity Onset...

2023年5月30日 · Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare, protein-coding HNF1A variant, most of unknown functional consequence.

肝细胞核因子 1α（HNF1A）、肝细胞核因子4α（HNF4A）和叉头框蛋白A2（FOXA2）是调控肝脏中复杂基因网络的关键转录因子，形成一个转录调控环路。

HNF1A is a gene which acts as a switch that turns on and off other genes in the body. Changes in the HNF1A gene cause diabetes by lowering the amount of insulin that is produced by the pancreas. It allows insulin to be produced normally in childhood but the amount of insulin reduces as you get older.

This review focuses on HNF1α gene polymorphisms, HNF1A-MODY3, HNF1A-associated T2D and GDM, and the related pathogenesis and treatment methods. We hope this review will provide a valuable reference for the precise and individualized treatment of diabetes caused by abnormal HNF1α by summarizing the clinical heterogeneity of blood glucose ...

2023年12月22日 · Here, we combined conditional genetic targeting in human islet cells, RNA-Seq, chromatin mapping with cleavage under targets and release using nuclease (CUT&RUN), and transplantation-based assays to determine HNF1α-regulated mechanisms in adult human pancreatic α and β cells.