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: SCAF4

Alternate names for this Gene: SFRS15|SRA4

Gene Summary: This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: SR-related CTD associated factor 4

Type of Gene: protein-coding

rs121912447 in SOD1;SCAF4 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 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 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 10430435 1999 A SOD1 gene mutation in a patient with slowly progressing familial ALS.

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

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

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

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

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

PMID 18378676 2008 Structures of the G85R variant of SOD1 in familial 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 8446170 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial 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 19741096 2009 Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.

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

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

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

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 7887412 1995 Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with 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 15258228 2004 Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.

PMID 15987780 2005 Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.

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

PMID 27978769 2017 Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.

PMID 23062701 2013 Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

PMID 20399791 2010 Exposure of hydrophobic surfaces initiates aggregation of diverse ALS-causing superoxide dismutase-1 mutants.

PMID 28222900 2017 Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.

PMID 21700728 2012 ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.

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

PMID 20309572 2010 The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.

PMID 11676987 2001 ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.

PMID 23100398 2012 Extensive genetics of ALS: a population-based study in Italy.

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

rs1131690781 in SOD1;SCAF4 gene and Motor Neuron Disease PMID 28089114 2017 Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.