Gene Symbol | SIGMAR1 |
Entrez Gene ID | 10280 |
Full Name | sigma non-opioid intracellular receptor 1 |
Synonyms | ALS16,DSMA2,OPRS1,SIG-1R,SR-BP,SR-BP1,SRBP,hSigmaR1,sigma1R |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]. |
Disorder MIM: | |
Disorder Html: | ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3); ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3) |