CHRNA5
Description
The CHRNA5 gene provides instructions for making the alpha 5 subunit of the nicotinic acetylcholine receptor (nAChR), a protein that plays a crucial role in transmitting nerve impulses across synapses. nAChRs are found in various parts of the body, including the brain, muscles, and the autonomic nervous system, where they are involved in a wide range of functions, including learning, memory, muscle contraction, and the regulation of heart rate and breathing. The alpha 5 subunit is particularly important for the function of nAChRs in the brain, where it is thought to play a role in cognitive processes.
Associated Diseases
- **Nicotine Dependence:** Variants in the CHRNA5 gene have been linked to an increased risk of nicotine dependence and smoking.
- **Schizophrenia:** Research suggests that alterations in CHRNA5 gene expression may contribute to the development of schizophrenia.
- **Alzheimer‘s Disease:** Studies have implicated CHRNA5 in the pathogenesis of Alzheimer‘s disease.
- **Epilepsy:** Certain CHRNA5 variants have been associated with an increased risk of epilepsy.
Did you know?
The CHRNA5 gene is highly polymorphic, meaning that it has many different variations in its sequence, which contributes to the diverse responses to nicotine and other drugs.
