ECHS1 wt Allele

Preferred Label : ECHS1 wt Allele;

NCIt synonyms : SCEH; Enoyl-CoA Hydratase, Short Chain, 1, Mitochondrial Gene; mECH1; Enoyl-CoA Hydratase, Short Chain 1 wt Allele; ECHS1D; mECH; Enoyl-CoA Hydratase, Short-Chain, 1, Mitochondrial Gene; Enoyl Coenzyme A Hydratase, Short Chain, 1, Mitochondrial Gene;

NCIt definition : Human ECHS1 wild-type allele is located in the vicinity of 10q26.3 and is approximately 11 kb in length. This allele, which encodes enoyl-CoA hydratase, mitochondrial protein, is involved in mitochondrial fatty acid beta-oxidation and the metabolism of valine. Mutation of the gene is associated with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.;

NCI Metathesaurus CUI : CL1915465;

GenBank Accession Number : NM_004092;

Détails

Origin ID

C201086;

UMLS CUI

C5849044;

OMIM relation
- Enoyl-coa hydratase, short-chain, 1, mitochondrial [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Beta-Alanine Metabolism Pathway [NCIt concept]
- Butanoate Metabolism Pathway [NCIt concept]
- Fatty Acid Elongation Pathway in Mitochondria [NCIt concept]
- Fatty Acid Metabolism Pathway [NCIt concept]
- Lysine Degradation Pathway [NCIt concept]
- Propanoate Metabolism Pathway [NCIt concept]
- Tryptophan 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]

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

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