ACADSB wt Allele

Preferred Label : ACADSB wt Allele;

NCIt synonyms : ACAD7; Acyl-Coenzyme A Dehydrogenase, Short/Branched Chain Gene; SBCAD; 2-MEBCAD; Acyl-CoA Dehydrogenase, Short/Branched Chain Gene; Acyl-CoA Dehydrogenase Short/Branched Chain wt Allele;

NCIt definition : Human ACADSB wild-type allele is located in the vicinity of 10q26.13 and is approximately 4949 kb in length. This allele, which encodes short/branched chain specific acyl-CoA dehydrogenase, mitochondrial protein, plays a role in fatty acid oxidation and branched-chain amino acid metabolism. Mutation of the gene is associated with 2-methylbutyrylglycinuria.;

NCI Metathesaurus CUI : CL1798987;

GenBank Accession Number : U12778;

Details

Origin ID

C190309;

UMLS CUI

C5780957;

OMIM relation
- Acyl-coa dehydrogenase, short/branched chain [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Acyl-coa dehydrogenase, short/branched chain [OMIM gene]
- acyl-CoA dehydrogenase short/branched chain [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q26.13 [NCIt concept]
gene_is_element_in_pathway
- Fatty Acid Metabolism Pathway [NCIt concept]
- 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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