CHRNA5

CHRNA5 is a gene that encodes the alpha-5 subunit of the nicotinic acetylcholine receptor (nAChR). The nicotinic acetylcholine receptor is a type of ionotropic receptor that is activated by the neurotransmitter acetylcholine.

Structure

The CHRNA5 gene is located on the long arm of chromosome 15 (15q25). The gene spans approximately 13.6 kilobases and consists of 6 exons. The encoded protein is a subunit of the nicotinic acetylcholine receptor, which is a pentameric structure composed of different combinations of alpha and beta subunits.

Function

The alpha-5 subunit encoded by CHRNA5 is one of the subunits that can be incorporated into the nicotinic acetylcholine receptor. This receptor is located in the neuronal synapse and is involved in the transmission of signals in the nervous system. When acetylcholine binds to the receptor, it causes the opening of an ion channel, allowing the flow of ions across the cell membrane. This results in the generation of an electrical signal that can be transmitted along the neuron.

Clinical significance

Variations in the CHRNA5 gene have been associated with an increased risk of nicotine dependence, lung cancer, and chronic obstructive pulmonary disease (COPD). In particular, a single nucleotide polymorphism (SNP) in the CHRNA5 gene, rs16969968, has been shown to be associated with a higher risk of nicotine dependence and lung cancer.

Research

Research on the CHRNA5 gene and its associated protein is ongoing, with a focus on understanding the role of this gene in nicotine dependence and lung cancer. This research may lead to the development of new treatments for these conditions.

External links

• GeneCards - CHRNA5
• NCBI - CHRNA5

See also

• Nicotinic acetylcholine receptor
• Neurotransmitter
• Ionotropic receptor
• Acetylcholine
• Neuronal synapse
• Nicotine dependence
• Lung cancer
• Chronic obstructive pulmonary disease