Where does the SOD1 gene normally function in the cell?
SOD1 functions as an antioxidant protein and is ubiquitously expressed with predominant localization in the cytoplasm but it is also localized within mitochondria,373,374 the nucleus,375 and the ER.
What does SOD1 encode?
SOD1 Gene – Superoxide Dismutase 1 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.
What is the gene product of SOD1?
The SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals.
What is SOD1 and SOD2?
Soluble cytoplasmic SOD1 is a copper- and zinc-containing enzyme (Online Mendelian Inheritance in Man; OMIM, 147450). SOD2 is a mitochondrial matrix enzyme that scavenges oxygen radicals produced by the extensive oxidation-reduction and electron transport reactions that occur in mitochondria (OMIM, 147460).
What type of enzyme is superoxide dismutase?
Superoxide dismutases (SOD) are a group of enzymes that catalyze the dismutation of superoxide radicals (O2−) to molecular oxygen (O2) and hydrogen peroxide (H2O2), providing cellular defense against reactive oxygen species (24).
Where is SOD1 gene located?
chromosome 21
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis and familial amyotrophic lateral sclerosis.
What is SOD1 and what is its role in ALS?
Abstract. The canonical role of superoxide dismutase 1 (SOD1) is as an antioxidant enzyme protecting the cell from reactive oxygen species toxicity. SOD1 was also the first gene in which mutations were found to be causative for the neurodegenerative disease amyotrophic lateral sclerosis (ALS), more than 20 years ago.
What is SOD1 in ALS?
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by motoneuron loss. Some familial cases (fALS) are linked to mutations of superoxide dismutase type-1 (SOD1), an antioxidant enzyme whose activity is preserved in most mutant forms.
What is the SOD1 gene in ALS?
What does SOD1 do in ALS?
The major effect of SOD1 mutations in ALS is linked to the protein aggregation and a prion-like propagation of misfolded molecules. These mutations may also lead to a loss of function of SOD1 by affecting its structure and/or interactions pattern.
How many amino acids are in SOD1?
153 amino acid residues
SOD1 consists of two of the same monomers of 153 amino acid residues, each of which is a beta-barrel composed of eight anti-parallel beta-sheets [5, 6].
Where is SOD2 gene produced?
Superoxide dismutase 2, mitochondrial (SOD2), also known as manganese-dependent superoxide dismutase (MnSOD), is an enzyme which in humans is encoded by the SOD2 gene on chromosome 6. A related pseudogene has been identified on chromosome 1. Alternative splicing of this gene results in multiple transcript variants.
What is SOD2 gene?
SOD2 Gene – Superoxide Dismutase 2 It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen.
What are the components of SOD?
Superoxide dismutases (SODs) are the major antioxidant defense systems against O2•−, which consist of three isoforms of SOD in mammals: the cytoplasmic Cu/ZnSOD (SOD1), the mitochondrial MnSOD (SOD2), and the extracellular Cu/ZnSOD (SOD3), all of which require catalytic metal (Cu or Mn) for their activation.
Where is SOD1?
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis and familial amyotrophic lateral sclerosis.
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
From analysing published data from patients with SOD1–amyotrophic lateral sclerosis, we find a marked loss of SOD1 enzyme activity arising from almost all mutations.
How many SOD1 mutations are there?
Currently, over 180 different mutations throughout the five exons of the SOD1 gene have been described, the majority of which are missense point mutations resulting in a dominant mode of inheritance causing more than 160 disease-associated variations spread over the entire 154 amino acid sequence (20, 21).
Is SOD1 gene inherited?
All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A.
How many amino acid residues long is the SOD1 protein?
What is SOD1 ALS?
Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamilial heterogeneity.
What does SOD2 gene do?
Where is SOD2 transported from?
SOD2 is located within the mitochondrial matrix, the main site of free radical production from the electron transport chain (22).
Where is the SOD2 gene produced?
What is SOD2 A16V?
SOD2 A16V (Mitochondria)-Superoxide dismutase (SOD2, MnSOD) enzyme in the mitochondria that transforms O2- superoxide free radical into diatomic oxygen (02) or hydrogen peroxide (H202). The removal of superoxide free radical reduces oxidative stress.
Is SOD1 a transcription factor?
In the nucleus, Sod1 binds to promoters and regulates the expression of oxidative resistance and repair genes. Altogether, our study unravels an unorthodox function of Sod1 as a transcription factor and elucidates the regulatory mechanism for its localization.
How does SOD1 regulate gene expression in response to elevated ROS?
These observations suggest that Sod1 regulates gene expression in response to elevated ROS. Sod1 is the major cytosolic superoxide dismutase responsible for dismutating superoxide, a free radical that is highly reactive and can cause cellular damage.
Is post-transcriptional regulation of SOD1 regulation possible?
Very few works on post-transcriptional regulation of SOD1 have been published so far. As mentioned above, two species of SOD1 mRNA with different 3′UTR lengths have been identified, and they produce in vitrodifferent quantities of SOD1 protein.
What is the molecular mass of SOD1?
Protein attributes for SOD1 Gene Size: 154 amino acids. Molecular mass: 15936 Da. Cofactor: Name=Cu cation; Xref=ChEBI:CHEBI:23378; Cofactor: Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Quaternary structure: Homodimer; non-disulfide linked.