Official Symbol

SOD1provided by HGNC
Official Full Name
superoxide dismutase 1provided by HGNC
Primary source
HGNC:HGNC:11179
See related
Ensembl:ENSG00000142168 MIM:147450; Vega:OTTHUMG00000084878
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria;
Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALS; SOD; ALS1; IPOA; hSod1; HEL-S-44; homodimer
Summary
The protein encoded by this gene binds copper and zinc ions and is one of two isozymes
responsible for destroying free superoxide radicals in the body. The encoded isozyme is a
soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but
harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other
isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes
of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for
this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 426.2), kidney (RPKM 226.6) and 23 other tissues
See more
Orthologs
mouse all