SOD2 wt Allele

Preferred Label : SOD2 wt Allele;

NCIt synonyms : MNSOD; Superoxide Dismutase 2, Mitochondrial wt Allele;

NCIt definition : Human SOD2 wild-type allele is located in the vicinity of 6q25.3 and is approximately 14 kb in length. This allele, which encodes superoxide dismutase [Mn], mitochondrial protein, is involved in the conversion of superoxide radicals to molecular oxygen and hydrogen peroxide. It also plays a role in modifying iron toxivity. Certain allelic variants of the SOD2 gene are associated with nonfamilial idiopathic cardiomyopathy.;

GenBank Accession Number : NM_000636;

Details

Origin ID

C50931;

UMLS CUI

C1705937;

Automatic exact mappings (from CISMeF team)
- Superoxide dismutase 2 [OMIM gene]
- superoxide dismutase [MeSH Descriptor]
- superoxide dismutase activity [GO term]
OMIM relation
- Superoxide dismutase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q25.3 [NCIt concept]
gene_is_element_in_pathway
- Erythropoietin Neuroprotection Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Longevity Pathway [NCIt concept]
- Peroxisome Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Oxidative Stress [NCIt concept]

Keyword's position in hierarchy(ies) :

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