HCRTR1
hcrtr1
Description
Hepatocyte nuclear factor 4 alpha (HNF4A) is a transcription factor that plays a critical role in the development and function of the liver. HNF4A is expressed in hepatocytes, the main cells of the liver, and is involved in regulating the expression of genes involved in liver-specific functions, such as metabolism, detoxification, and bile production. Mutations in the HNF4A gene can lead to a variety of liver diseases, including maturity-onset diabetes of the young (MODY), hyperinsulinemic hypoglycemia, and liver failure.
Associated Diseases
Mutations in the HNF4A gene have been linked to several liver diseases, including:
- Maturity-onset diabetes of the young (MODY): MODY is a type of diabetes that typically develops in adolescence or young adulthood. It is caused by mutations in genes that are involved in insulin secretion, including HNF4A. MODY is characterized by high blood sugar levels and can lead to complications such as kidney disease, eye damage, and nerve damage.
- Hyperinsulinemic hypoglycemia: Hyperinsulinemic hypoglycemia is a condition characterized by low blood sugar levels due to excessive insulin secretion. It can be caused by mutations in the HNF4A gene, which can lead to overexpression of insulin. Symptoms of hyperinsulinemic hypoglycemia include seizures, coma, and developmental delay.
- Liver failure: Liver failure is a life-threatening condition that occurs when the liver is unable to function properly. It can be caused by a variety of factors, including mutations in the HNF4A gene. Symptoms of liver failure include jaundice, ascites, and encephalopathy.
Did you Know ?
Mutations in the HNF4A gene are estimated to be responsible for approximately 10% of cases of MODY.
