CHRNA5 (Cholinergic Receptor Nicotinic Alpha Subunit 5) encodes the α5 subunit of the nicotinic acetylcholine receptor (nAChR). This gene is located on chromosome 15q25.1 and encodes a ligand-gated ion channel protein that is widely expressed in the central nervous system, particularly in the hippocampus, cortex, and basal ganglia[^1]. The α5 subunit is a critical component of several nAChR subtypes, including the major hippocampal α4β2α5 and α3β4α5 receptor configurations.
The CHRNA5 gene has been extensively studied due to its strong association with nicotine dependence and its implications in various neurological disorders. Genetic variants in CHRNA5, particularly the rs16969968 nonsynonymous polymorphism (Asn398Asp), have been consistently linked to increased risk of nicotine addiction and heavier smoking behavior[^2]. Beyond addiction, CHRNA5 has emerged as an important gene in neurodegenerative diseases, with altered expression and function observed in Alzheimer's disease, Parkinson's disease, and Lewy body dementia.
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| Symbol | CHRNA5 |
| Full Name | Cholinergic Receptor Nicotinic Alpha Subunit 5 |
| Chromosome | 15q25.1 |
| NCBI Gene | 1138 |
| OMIM | 118511 |
| Ensembl | ENSG00000168734 |
| UniProt | P43681 |
| Associated Diseases | Nicotine addiction, lung cancer, AD |
CHRNA5 (Cholinergic Receptor Nicotinic Alpha Subunit) is a gene encoding a protein that plays important roles in neuronal signaling and has been implicated in neurodegenerative diseases including Alzheimer's and Parkinson's disease.
The CHRNA5 gene encodes a critical subunit of nicotinic acetylcholine receptors (nAChRs), which are ligand-gated ion channels important for fast synaptic transmission in the central nervous system. These receptors are widely expressed in the brain and play roles in cognitive function, attention, and motor control.
Nicotinic acetylcholine receptors are pentameric ligand-gated ion channels composed of alpha and beta subunits. The CHRNA5 subunit contributes to receptor heterogeneity and influences receptor trafficking, conductance properties, and pharmacological sensitivity. Research has shown that variations in CHRNA5 are associated with nicotine dependence, and dysregulation of these receptors has been observed in neurodegenerative conditions.
CHRNA5 encodes the alpha-5 subunit of nicotinic receptors. Important for nicotine addiction and cognitive function.
High expression in hippocampus and cortex.