Gene: [21q221/SOD1] superoxide dismutase 1, soluble; amyotrophic lateral sclerosis 1 (adult; MIM:105400); indophenoloxidase A;
FUN | Systematic name: peroxide:peroxide oxidoreductase. The enzyme catalyzes peroxide dismutation reaction: 2 peroxide radical + 2 H+ = O(2) + H(2)O(2)." |
MOP | The enzyme is a homodimer containing Cu(2+) and Zn(2+). The subunit is 153 amino acid residues." |
FAG | There is also a Mn-containing form in eukaryotic mitochondria (GEM:06q25/SOD2). The gene for extracellular peroxide dismutase (Cu, Zn-containing) is mapped to Chr 4: GEM:04^/SOD3. A high-molecular Cu-containing isoform has been found in human lung." |
HET | Several loci accounting for amyotrophic lateral sclerosis are identified: GEM:02q3/ALS2; GEM:00.0/ALS3, GEM:09q34/ALS4, GEM:15q/ALS5." |
REF | MUT "Andersen PM &:
Nature Genet, 10, N1, 61-66, 1995 MUT "Aoki M &: J Neurol Sci, 126, N1, 77-83, 1994 LOC,CYG,LIN "Aula &: Clin Genet, 4, 241-251, 1973 MUT "Bruijn LI &: Neuron, 18, N2, 327-338, 1997 LOC,CYG,LIN "Cox &: CCG, 37, (HGM7), 441-442, 1984 REV "de Belleroche J &: J Med Genet, 32, 841-847, 1995 MEB,EVO,MAM "Elroy-Stein, Groner: Cell, 52, 259-267, 1988 MEB,EVO,MAM "Gronner &: Cold Spring Harbor Symp, 51, (Part 1), 381-393, 1986 LOC,CYG,MOL "Huret JL &: Hum Genet, 75, 251-257, 1987 MUT,PAT "Jones CT &: Lancet, 342, 1050-1051, 1993 MAP "Kittur SD &: CCG, 40, (HGM8), 668, 1985a MAP "Kittur SD &: EMBO J, 4, N9, 2257-2260, 1985b MEB,EVO,MAM "Marklund SL: Biochem J, 222, 649-655, 1984 FUN,FAG "Marklund SL: PNAS, 79, 7634-7638, 1982 LOC,CYG,MOL "Miyazaki K &: Clin Genet, 32, 383-387, 1987 MUT,PAT "Pramatarova A &: AJHG, 56, 592-596, 1995 MUT,PAT "Rosen DR &: Nature, 362, 59-62, 1993 PRO,EXP,SEQ "Sherman L &: PNAS, 80, (Sep), 5465-5469, 1983 REV "Siddique T, Deng H-X: Hum Mol Genet, 5, 1465-1470, 1996 LIN,LOC "Siddique T &: New Engl J Med, 324, 1381-1384, 1991 LOC,CYG,LIN "Sinet PM &: Exp Cell Res, 97, 47-55, 1976 LOC,CYG,LIN "Tan &: J Exp Med, 37, 317-330, 1973 |
SWI | SWISSPROT: P00441 |
KEY | xen, neu |
CLA | coding, basic |
LOC | 21 q22.1 |
MIM | MIM: 147450 |
EZN | ENZYME: 1.15.1.1 |
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