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

Gene: LOC102724449

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1169198442 in SOD1;LOC102724449 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 12402272 2002 """True"" sporadic ALS associated with a novel SOD-1 mutation."

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

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

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

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

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

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

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

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

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

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

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

PMID 19259395 2009 Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS.

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

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

PMID 12482932 2002 Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state.

PMID 19618436 2009 SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.

PMID 19800308 2009 Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.

PMID 22094223 2011 Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.

PMID 19176896 2009 Age and founder effect of SOD1 A4V mutation causing ALS.

PMID 7951249 1994 A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.

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

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

PMID 17543992 2007 Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS.

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

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

PMID 8179602 1994 We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.