| SIGMAR1 — Sigma Non-Opioid Intracellular Receptor 1 | |
|---|---|
| Symbol | SIGMAR1 |
| Full Name | Sigma Non-Opioid Intracellular Receptor 1 |
| Chromosome | 9p13.3 |
| NCBI Gene | 10285 |
| Ensembl | ENSG00000147955 |
| OMIM | 614514 |
| UniProt | Q9Y6D5 |
| Diseases | Amyotrophic Lateral Sclerosis, Frontotemporal Dementia |
| Expression | Motor cortex, Spinal cord, Liver, Heart, Brain |
Sigmar1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1) is a gene located on chromosome 9p13.3 that encodes a unique transmembrane receptor protein[1]. Mutations in SIGMAR1 are associated with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia[2]. The gene is catalogued as NCBI Gene ID 10285.
The Sigma-1 receptor is a distinct chaperone protein localized primarily to the mitochondria-associated endoplasmic reticulum membrane (MAM), where it regulates calcium signaling, lipid metabolism, and cellular stress responses[3].
The SIGMAR1 gene encodes a transmembrane protein that functions as a ligand-operated chaperone with unique pharmacological properties[4]. Unlike classical receptors, Sigma-1 binds a wide range of compounds including psychotropic drugs, neurosteroids, and copper ions.
SIGMAR1 mutations are associated with:
The Sigma-1 receptor plays several roles in motor neuron survival:
SIGMAR1 represents a promising therapeutic target for ALS and FTD:
The study of Sigmar1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Hayashi T, Su TP. (2007). "The sigma-1 receptor chaperone." Cell. PMID:17347653. ↩︎
Al Saad M, et al. (2019). "SIGMAR1 mutations and neurodegeneration." Nat Rev Neurol. PMID:30643246. ↩︎ ↩︎
Matsumoto RR, et al. (2019). "Targeting sigma-1 receptors in neurodegeneration." Eur J Pharmacol. PMID:30639789. ↩︎
Luty AA, et al. (2010). "Sigma-1 receptor gene and ALS/FTD." Brain. PMID:20855424. ↩︎
R ys. B, et al. (2020). "Sigma-1 receptor as a therapeutic target." Nat Rev Drug Discov. PMID:32322077. ↩︎
Geva, M., et al. (2016). Targeting the sigma-1 receptor with pridopidine for the treatment of Huntington's disease. CNS Drugs. PMID:27439589. ↩︎