HNF4A : hepatocyte nuclear factor 4 alpha
Hepatocyte Nuclear Factor-4 Alpha (HNF-4α): A Key Player in Metabolism and Development
Description
The HNF4A gene encodes the hepatocyte nuclear factor-4 alpha (HNF-4α) protein, a crucial transcription factor involved in the regulation of gene expression in the liver, pancreas, and kidneys.
Role in Metabolism and Development
In the pancreas, HNF-4α plays a vital role in the development and function of beta cells, which produce insulin. Insulin is essential for regulating blood sugar levels by promoting glucose uptake by cells. Mutations in the HNF4A gene can impair beta cell function and lead to type 1 diabetes.
In the liver, HNF-4α controls genes involved in various metabolic processes, including cholesterol metabolism, bile acid synthesis, and detoxification. Mutations in HNF4A can cause liver disorders such as liver failure and cirrhosis.
Structure and Function
The HNF-4α protein consists of several domains, including the dimerization domain and DNA binding domain. The dimerization domain enables HNF-4α proteins to form homodimers or heterodimers with other transcription factors. The DNA binding domain allows the HNF-4α dimer to bind to specific DNA sequences in the genome, facilitating the regulation of gene expression.
Associated Diseases
Mutations in the HNF4A gene are associated with a range of diseases, including:
- Type 1 diabetes
- Maturity-onset diabetes of the young (MODY)
- Liver failure
- Cirrhosis
- Kidney disease
Did you Know ?
Mutations in the HNF4A gene account for approximately 5% of cases of type 1 diabetes.
