SIGMAR1

Chr 9AR

sigma non-opioid intracellular receptor 1

Also known as: ALS16, DSMA2, HMNR2, OPRS1, S1R, SIG-1R, SR-BP, SR-BP1

NCBI Gene: 10280 ENSG00000147955 UniProt: Q99720 OMIM: 601978

The sigma-1 receptor functions in lipid transport from the endoplasmic reticulum, regulates various receptors and ion channels, and is necessary for proper mitochondrial axonal transport in motor neurons. Mutations cause juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with autosomal recessive inheritance. These conditions primarily affect the motor neuron system, with juvenile onset distinguishing them from typical adult-onset ALS.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Amyotrophic lateral sclerosis 16, juvenileMIM #614373

?Neuronopathy, distal hereditary motor, autosomal recessive 2MIM #605726

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

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Mechanism