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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