ETFA wt Allele

Preferred Label : ETFA wt Allele;

NCIt synonyms : Electron-Transfer-Flavoprotein, Alpha Polypeptide Gene; Electron Transfer Flavoprotein, Alpha Polypeptide Gene; MADD; GA2; EMA; Electron Transfer Flavoprotein Alpha Subunit wt Allele;

NCIt definition : Human ETFA wild-type allele is located within 15q24.2-q24.3 and is approximately 96 kb in length. This allele, which encodes electron transfer flavoprotein subunit alpha, mitochondrial protein, is involved in cellular respiration. Mutation of the gene is associated with glutaric aciduria 2A.;

NCI Metathesaurus CUI : CL514418;

GenBank Accession Number : J04058;

Details

Origin ID

C131570;

UMLS CUI

C4318614;

Automatic exact mappings (from CISMeF team)
- Glutaric aciduria, type 2 (disorder) [SNOMED CT concept]
- MAP kinase activating death domain [ORDO Gene]
- Map kinase-activating death domain [OMIM gene]
- Mucin 1, cell surface associated [OMIM gene]
- Multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Multiple acyl-coa dehydrogenase deficiency [OMIM Phenotype]
- electron transfer flavoprotein subunit alpha [ORDO Gene]
- monoacetyldapsone [MeSH Supplementary Concept]
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
- status asthmaticus [MeSH Descriptor]
OMIM relation
- Electron transfer flavoprotein, alpha polypeptide [OMIM gene]
See also inter- (CISMeF)
- Multiple acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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