background:
This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Function:
Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
Subunit:
Homotetramer.
Subcellular Location:
Mitochondrion matrix.
Post-translational modifications:
Nitrated under oxidative stress. Nitration coupled with oxidation inhibits the catalytic activity.
Acetylation at Lys-122 decreases enzymatic activity. Deacetylated by SIRT3 upon exposure to ionizing radiations or after long fasting.
DISEASE:
Microvascular complications of diabetes 6 (MVCD6) [MIM:612634]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Similarity:
Belongs to the iron/manganese superoxide dismutase family.
Database links:
Entrez Gene: 374042 Chicken
Entrez Gene: 281496 Cow
Entrez Gene: 476258 Dog
Entrez Gene: 6648 Human
Entrez Gene: 20656 Mouse
Entrez Gene: 100154319 Pig
Entrez Gene: 24787 Rat
Omim: 14792 Human
SwissProt: P41976 Cow
SwissProt: P04179 Human
SwissProt: P09671 Mouse
SwissProt: P41982 Rabbit
SwissProt: P07895 Rat
Unigene: 487046 Human
Unigene: 290876 Mouse
Unigene: 10488 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
