SIGMAR1 wt Allele

Preferred Label : SIGMAR1 wt Allele;

NCIt synonyms : ALS16; Opioid Receptor, Sigma 1 Gene; SRBP; DSMA2; SR-BP1; hSigmaR1; SR-BP; Sigma1R; Sigma Non-Opioid Intracellular Receptor 1 wt Allele; OPRS1; SIG-1R; Sigma Receptor, Type 1 Gene; Sigma Nonopioid Intracellular Receptor 1 Gene;

NCIt definition : Human SIGMAR1 wild-type allele is located in the vicinity of 9p13.3 and is approximately 3 kb in length. This allele, which encodes sigma non-opioid intracellular receptor 1 protein, plays a role in the cellular localization of mitochondria and lipids and in binding certain psychoactive drugs. Mutation of the gene is associated with juvenile amyotrophic lateral sclerosis 16 and autosomal recessive, distal spinal muscular atrophy 2.;

NCI Metathesaurus CUI : CL1662045;

GenBank Accession Number : BC004899;

Details

Origin ID

C179234;

UMLS CUI

C5551135;

Automatic exact mappings (from CISMeF team)
- Amyotrophic lateral sclerosis 16, juvenile [OMIM Phenotype]
- Distal hereditary motor neuropathy type 2 [ORDO Disease]
- Neuronopathy, distal hereditary motor, autosomal recessive 2 [OMIM Phenotype]
- Sigma nonopioid intracellular receptor 1 [OMIM gene]
- amyotrophic lateral sclerosis type 16 [DO Concept]
- distal spinal muscular atrophy 2 [DO Concept]
- sigma non-opioid intracellular receptor 1 [ORDO Gene]
OMIM relation
- Sigma nonopioid intracellular receptor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Mental Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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