ACAD8 wt Allele

Preferred Label : ACAD8 wt Allele;

NCIt synonyms : ACAD-8; ARC42; Acyl-CoA Dehydrogenase Family, Member 8 Gene; Acyl-CoA Dehydrogenase Family Member 8 wt Allele; IBDH; Acyl-Coenzyme A Dehydrogenase Family, Member 8 Gene; IBD;

NCIt definition : Human ACAD8 wild-type allele is located in the vicinity of 11q25 and is approximately 12 kb in length. This allele, which encodes isobutyryl-CoA dehydrogenase, mitochondrial protein, is involved in the valine catabolic pathway. Mutation of the gene is associated with isobutyryl-CoA dehydrogenase deficiency.;

NCI Metathesaurus CUI : CL1904782;

GenBank Accession Number : AF126245;

Détails

Origin ID

C191372;

UMLS CUI

C5780974;

OMIM relation
- Acyl-coa dehydrogenase family, member 8 [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]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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