" /> SOD1 wt Allele - CISMeF





Preferred Label : SOD1 wt Allele;

NCIt synonyms : IPOA; ALS; SOD; ALS1; Superoxide Dismutase 1, Soluble (Amyotrophic Lateral Sclerosis 1 (Adult)) wt Allele;

NCIt definition : Human SOD1 wild-type allele is located within 21q22 and is approximately 9 kb in length. This allele, which encodes superoxide dismutase [Cu-Zn] protein, is involved in the conversion of superoxide radicals to molecular oxygen and hydrogen peroxide. Certain allelic variants of the SOD1 gene cause Amyotrophic Lateral Sclerosis.;

NCIt note : Point mutations in the SOD1 gene produce a misfolded protein product, resulting in reduced catalytic activity relative to the wild-type protein. This dysfunction has been shown to cause the development of amyotrophic lateral sclerosis.;

GenBank Accession Number : NM_000454;

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14/05/2024


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