NR2C1
NR2C1: A Key Player in Brain Function and Disease
Description
NR2C1, also known as the nuclear receptor subfamily 2 group C member 1, is a protein that plays a crucial role in various physiological processes, primarily in the nervous system. It is a member of the nuclear receptor superfamily, which is known for regulating gene expression.
NR2C1 is expressed throughout the brain, with higher levels in the forebrain, hippocampus, and cerebellum. It is involved in a wide range of functions, including neuronal development, synaptic plasticity, and neurotransmission.
Associated Diseases
Dysregulation of NR2C1 has been linked to several neurological and psychiatric disorders, including:
- Autism spectrum disorder (ASD): Studies have suggested that NR2C1 may play a role in the development of ASD by influencing gene expression patterns.
- Schizophrenia: NR2C1 has been found to be decreased in the brains of individuals with schizophrenia, suggesting a potential involvement in the disease.
- Epilepsy: NR2C1 has been implicated in regulating seizure activity, and animal studies have shown that its deficiency can increase seizure susceptibility.
- Depression: NR2C1 has been shown to regulate the expression of genes involved in mood regulation, and its dysfunction may contribute to depression.
- Neurodegenerative diseases: NR2C1 has been found to protect against neurodegeneration in animal models of Alzheimer's and Parkinson's diseases.
Did you Know ?
Research has shown that individuals with autism spectrum disorder (ASD) have lower levels of NR2C1 in their brains compared to typically developing individuals. This finding highlights the potential role of NR2C1 in the development of ASD and suggests that it may be a therapeutic target for the disorder.
