The 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.
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
Related Genetics Topics
- Congenital hyperinsulinism — MedlinePlus Genetics
- Maturity-onset diabetes of the young — MedlinePlus Genetics
Identifiers
- NCBI Gene: 3172
- OMIM: 600281
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
