Gene: SOD1

Alternate names for this Gene: ALS|ALS1|HEL-S-44|IPOA|SOD|STAHP|hSod1|homodimer

Gene Summary: The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: superoxide dismutase 1

Type of Gene: protein-coding

rs11556620 in SOD1 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 17653917 2007 Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.

PMID 21914052 2012 EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.

PMID 16324086 2005 EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.

PMID 9455977 1997 Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).

PMID 8528216 1995 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

PMID 8907321 1996 A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.

PMID 7951252 1994 Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

PMID 8446170 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

PMID 8351519 1993 Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.

PMID 9131652 1997 A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.

PMID 12963370 2003 ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.

PMID 10430435 1999 A SOD1 gene mutation in a patient with slowly progressing familial ALS.

PMID 8069312 1994 Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.

PMID 12402272 2002 """True"" sporadic ALS associated with a novel SOD-1 mutation."

PMID 10400992 1999 Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.

PMID 15056757 2004 Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.

PMID 7836951 1994 Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.

PMID 19741096 2009 Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.

PMID 7870076 1994 Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.

PMID 7887412 1995 Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

PMID 18378676 2008 Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.

PMID 7496169 1995 Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

PMID 7881433 1994 Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.

PMID 16793335 2006 Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations.

PMID 19483195 2009 Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.

PMID 16291929 2005 Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.

PMID 26069299 2016 The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis.

PMID 9029070 1997 Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.

PMID 20404329 2010 Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.

PMID 23280792 2012 A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.

PMID 7891072 1995 Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced in baculovirus-infected insect cells.

PMID 28291249 2017 Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.

PMID 12963370 2003 Characterizations of beta-barrel (H43R) and dimer interface (A4V) FALS mutants reveal reduced stability and drastically increased aggregation propensity.

PMID 21257910 2011 Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS.

PMID 7655471 1995 Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.

PMID 22647583 2012 Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene.

PMID 20404910 2010 Metal-free ALS variants of dimeric human Cu,Zn-superoxide dismutase have enhanced populations of monomeric species.

PMID 20184893 2010 Disulfide-reduced ALS variants of Cu, Zn superoxide dismutase exhibit increased populations of unfolded species.

PMID 7997024 1995 """Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."

PMID 26362407 2015 Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1.

PMID 23286750 2013 Familial amyotrophic lateral sclerosis in Alberta, Canada.

PMID 28089144 2017 Essential role of ICAM-1 in aldosterone-induced atherosclerosis.

PMID 28105640 2017 The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

PMID 21549128 2011 ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.

PMID 1259395 1976 Influence of cephalosporin antibiotics on blood coagulation and platelet function.

PMID 22292843 2012 SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

PMID 23726301 2014 The influence of topography on dynamic wetting.

PMID 14506936 2003 Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

PMID 10889018 2000 Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant.

PMID 19635794 2009 A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop.

PMID 8298637 1993 Mild ALS in Japan associated with novel SOD mutation.

PMID 18951903 2009 Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.

PMID 22475618 2012 "Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs121912431 in SOD1 gene and Motor Neuron Disease PMID 28089114 2017 Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.