OXCT1 wt Allele

Preferred Label : OXCT1 wt Allele;

NCIt synonyms : SCOT; 3-Oxoacid CoA-Transferase 1 wt Allele; OXCT;

NCIt definition : Human OXCT1 wild-type allele is located in the vicinity of 5p13.1 and is approximately 141 kb in length. This allele, which encodes succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial protein, is involved in ketone body metabolism. Loss of function mutations in the gene are associated with succinyl-CoA:3-oxoacid-CoA transferase deficiency (SCOTD).;

NCI Metathesaurus CUI : CL938025;

GenBank Accession Number : U62961;

Details

Origin ID

C158469;

UMLS CUI

C4761557;

Automatic exact mappings (from CISMeF team)
- 3-oxoacid CoA-transferase 1 [ORDO Gene]
- 3-oxoacid coa transferase 1 [OMIM gene]
- motorcycles [MeSH Descriptor]
- support-coated open-tubular (SCOT) column [IUPAC Term]
OMIM relation
- 3-oxoacid coa transferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p13.1 [NCIt concept]
gene_is_element_in_pathway
- Butanoate Metabolism Pathway [NCIt concept]
- Synthesis and Degradation of Ketone Bodies Pathway [NCIt concept]
- Valine, Leucine and Isoleucine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Intermediary Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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