hepatocyte nuclear factor 4 alpha
Zuletzt aktualisiert 18. Aug 2020
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Der HNF4A gene provides instructions for making a protein called hepatocyte nuclear factor-4 alpha (HNF-4α). This protein plays an important role in the function of certain tissues and organs in the body. The HNF-4α protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.
Normal function
Der HNF4A gene provides instructions for making a protein called hepatocyte nuclear factor-4 alpha (HNF-4α). This protein plays an important role in the function of certain tissues and organs in the body. The HNF-4α protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.
The HNF-4α protein controls genes that are especially important for development and function of beta cells in the pancreas. Beta cells produce and release (secrete) the hormone insulin. Insulin helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. The HNF-4α protein also controls genes involved in normal liver functions.
The structure of the HNF-4α protein includes several important regions. One of the regions, called the dimerization domain, is critical for protein interactions. This region allows molecules of HNF-4α to interact with each other, creating a two-protein unit (dimer) that functions as a transcription factor. Another region, known as the DNA binding domain, binds to specific areas of DNA, allowing the dimer to control gene activity.
Conditions referring to this gene or chromosome
Other names
HEPATOCYTE NUCLEAR FACTOR 4-ALPHA
HNF4-ALPHA
HNF4A gene
NR2A1
Nuclear Receptor Subfamily 2, Group A, Member 1
TCF14
TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR
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Weiterführende Lektüre und Referenzen
- hepatocyte nuclear factor 4 alpha; MedlinePlus, National Library of Medicine.
- Rha GB, Wu G, Chi YI. Probing the effect of MODY mutations near the co-activator-binding pocket of HNF4alpha. Biosci Rep. 2011 Oct;31(5):411-9. doi: 10.1042/BSR20110013.
- Singh P, Tung SP, Han EH, Lee IK, Chi YI. Dimerization defective MODY mutations of hepatocyte nuclear factor 4alpha. Mutat Res. 2019 Mar;814:1-6. doi: 10.1016/j.mrfmmm.2019.01.002. Epub 2019 Jan 9.
- Yamagata K. Roles of HNF1alpha and HNF4alpha in pancreatic beta-cells: lessons from a monogenic form of diabetes (MODY). Vitam Horm. 2014;95:407-23. doi: 10.1016/B978-0-12-800174-5.00016-8.
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18. Aug 2020 | Neueste Version
1. Juli 2020 | Ursprünglich veröffentlicht
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