| Hepatocyte Nuclear Factor 4 Alpha | |
|---|---|
| Gene Symbol | HNF4A |
| Full Name | Hepatocyte Nuclear Factor 4 Alpha |
| Chromosome | 20q13.12 |
| NCBI Gene ID | 3172 |
| OMIM | 125850 |
| Ensembl ID | ENSG00000101076 |
| UniProt ID | P41235 |
| Associated Diseases | MODY1 Diabetes, Type 2 Diabetes, Alzheimer's Disease, Parkinson's Disease |
HNF4A (Hepatocyte Nuclear Factor 4 Alpha) is a gene encoding a protein involved in metabolic regulation. Located on chromosome 20q13.12, this gene encodes a protein that plays important roles in lipid metabolism, energy homeostasis, and transcriptional regulation.[1] The gene is expressed in multiple tissues including brain, where it is involved in neuroprotective pathways and inflammation.[2] Mutations or dysregulation of HNF4A have been implicated in Alzheimer's disease, Parkinson's disease, and metabolic disorders.[3]
HNF4A (Hepatocyte Nuclear Factor 4 alpha) is a nuclear receptor transcription factor that regulates the expression of genes involved in metabolism, development, and cell differentiation. It is a ligand-activated transcription factor that binds DNA as a homodimer. HNF4A plays crucial roles in pancreatic beta-cell function, hepatic gene expression, and lipid metabolism. It regulates genes involved in glucose transport, glycolysis, and insulin secretion. HNF4A is essential for normal pancreatic development and function.
HNF4A is implicated in neurodegenerative diseases through its metabolic functions. In Alzheimer's disease, HNF4A expression is altered and may affect glucose metabolism in the brain. Studies have shown that HNF4A polymorphisms are associated with AD risk. HNF4A is involved in regulating genes that affect amyloid-beta metabolism and clearance. In Parkinson's disease, HNF4A may influence mitochondrial function and oxidative stress response. HNF4A also plays roles in neuroinflammation.
HNF4A is highly expressed in liver, pancreas, kidney, and intestine. In the brain, it is expressed in various regions including hippocampus, cortex, and cerebellum. Expression is detected in neurons and some glial cells. Brain expression may differ from peripheral organ expression due to alternative promoter usage.