IVD wt Allele - CISMeF

Preferred Label : IVD wt Allele;

NCIt synonyms : ACAD2; IVDH; Isovaleryl CoA Dehydrogenase Gene; Isovaleryl Coenzyme A Dehydrogenase Gene; Isovaleryl-CoA Dehydrogenase wt Allele;

NCIt definition : Human IVD wild-type allele is located in the vicinity of 15q15.1 and is approximately 30 kb in length. This allele, which encodes isovaleryl-CoA dehydrogenase, mitochondrial protein, plays a role in leucine catabolism. Loss of function mutations in the gene results in an accumulation of isovaleric acid and can lead to isovaleric acidemia.;

NCI Metathesaurus CUI : CL1799165;

GenBank Accession Number : AF038317;

Details

Origin ID

C190590;

UMLS CUI

C5780966;

Currated CISMeF NLP mapping
- Isovaleryl-coa dehydrogenase [OMIM gene]
- isovaleryl-CoA dehydrogenase [ORDO Gene]
OMIM relation
- Isovaleryl-coa dehydrogenase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Valine, Leucine and Isoleucine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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