What protein does SOD1 code for?
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.
How many amino acids residues long is the SOD1 protein?
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].
How many amino acids are in SOD1?
Description. Recombinant Human Cu/Zn Superoxide Dismutase produced in E. Coli is a single monomeric non-glycosylated polypeptide chain containing 154 amino acids and having a total molecular mass of 15.9 kDa. The SOD1 is purified by proprietary chromatographic techniques.
How many exons does the SOD1 gene have?
five exons
Mutations of the SOD1 gene, which encodes the enzyme copper/zinc superoxide dismutase, are associated with familial amyotrophic lateral sclerosis (ALS). SOD1 consists of five exons, and over 50 different mutations have been described involving exons 1,2,4 and 5.
Is SOD1 a gene or protein?
SOD1 (Superoxide Dismutase 1) is a Protein Coding gene. Diseases associated with SOD1 include Amyotrophic Lateral Sclerosis 1 and Spastic Tetraplegia And Axial Hypotonia, Progressive. Among its related pathways are Oxidative Stress and Doxorubicin Pathway, Pharmacokinetics.
How does SOD1 cause ALS?
It is widely accepted that a hallmark of SOD1-associated ALS is the deposition of SOD1 into insoluble aggregates in motor neurons, probably due to a consequence of structural destabilisation and/or oxidative damage induced by gene mutations which in turn contribute to the misfolding and aggregation of SOD1 into …
Where is SOD1 produced?
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. Presently, over 150 mutations in the SOD1 gene have been identified in association with FALS.
Where is SOD1 found?
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21.
Which chromosome is the SOD1 gene on?
Where is the SOD1 gene expressed?
chromosome 21q22
Hence, SOD1 expression levels are important for the elimination of cellular superoxides. The human SOD1 gene is located on chromosome 21q22. 11 and it produces a 16-kDa protein that is often homodimerized, and widely distributed in the cytosol, nucleus, peroxisome, and intermembrane space of the mitochondria (5,6).
What Happens When SOD1 is mutated?
Mutations to the gene coding for Sod1 are linked to an inherited form of amyotrophic lateral sclerosis (fALS), a neurodegenerative disease resulting in paralysis and eventual death [17,18].