Details for Gene SOD1

GENE NAME SOD1
CHROMOSOME 21
ENSEMBL ID None
ENTREZ ID ENSG00000142168
UNIPROT ACCESSION NUMBER P00441
GO MOLECULAR FUNCTION ['zinc ion binding', 'small GTPase binding', 'superoxide dismutase activity', 'protein binding', 'protein phosphatase 2B binding', 'copper ion binding', 'chaperone binding', 'identical protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04146; hsa04213; hsa05014; hsa05016; hsa05020; hsa05022; R-HSA-109582; R-HSA-114608; R-HSA-1280215; R-HSA-168256; R-HSA-2262752; R-HSA-3299685; R-HSA-447115; R-HSA-449147; R-HSA-76002; R-HSA-76005; R-HSA-8950505; R-HSA-8953897; R-HSA-9020591
42 combinations linked to SOD1 OLI941; OLI775; OLI439; OLI1701; OLI965; OLI970; OLI1700; OLI330; OLI940; OLI331; OLI335; OLI948; OLI968; OLI333; OLI764; OLI967; OLI1621; OLI1639; OLI634; OLI280; OLI658; OLI1699; OLI966; OLI328; OLI969; OLI942; OLI778; OLI943; OLI1635; OLI964; OLI1008; OLI334; OLI270; OLI269; OLI440; OLI635; OLI1631; OLI1628; OLI329; OLI332; OLI777; OLI636
22 variants linked to SOD1 SOD1:p.Asp90Ala; SOD1:p.Ala5Val; SOD1:c.199C>G, p.Pro67Ala; SOD1:c.112G>A, p.Gly38Arg; SOD1:p.Ala90Val; SOD1:c.272A>C, p.Asp91Ala; SOD1:c.335G>A, p.Cys112Tyr; SOD1:c.424G>A, p.Gly142Arg; SOD1:c.341T>C, p.Ile114Thr; SOD1:c.435G>C, p.Leu145Phe; SOD1:p.Asp77Tyr; SOD1:c.125G>A, p.Gly42Asp; SOD1:c.26T>A, p.Leu9Gln; SOD1:c.19T>A, p.Cys7Ser; SOD1:c.34G>T, p.Asp12Tyr; SOD1:c.272A>C, p.Asp91Ala; SOD1:c.435G>C, p.Leu145Phe; SOD1:c.313A>T, p.Ile105Phe; SOD1:c.262G>A, p.Val88Met; SOD1:p.Val48Ala; SOD1:p.Gly94Arg; SOD1:p.Glu22Gly
1 disease linked to SOD1 Amyotrophic lateral sclerosis
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