KEGG   VARIANT: 10280v1
Entry
10280v1                      Variant                               
Name
SIGMAR1 mutation
Gene
SIGMAR1  sigma non-opioid intracellular receptor 1 [KO:K20719]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601978
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Reference
  Authors
Al-Saif A, Al-Mohanna F, Bohlega S
  Title
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
  Journal
Ann Neurol 70:913-9 (2011)
DOI:10.1002/ana.22534
Reference
  Authors
Fukunaga K, Shinoda Y, Tagashira H
  Title
The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis.
  Journal
J Pharmacol Sci 127:36-41 (2015)
DOI:10.1016/j.jphs.2014.12.012
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