ACACA wt Allele

Preferred Label : ACACA wt Allele;

NCIt synonyms : Acetyl-CoA Carboxylase Alpha wt Allele; ACC; ACC1; ACCA; ACACAD; ACAC; Acac1; ACACalpha; ACCalpha;

NCIt definition : Human ACACA wild-type allele is located in the vicinity of 17q21 and is approximately 325 kb in length. This allele, which encodes acetyl-CoA carboxylase 1 protein, is involved in long-chain fatty acid biosynthesis. Mutation of the gene is associated with acetyl-CoA carboxylase 1 deficiency.;

GenBank Accession Number : U19822;

Détails

Origin ID

C103886;

UMLS CUI

C3541413;

OMIM relation
- Acetyl-coa carboxylase-alpha [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21 [NCIt concept]
gene_is_element_in_pathway
- Fatty Acid Biosynthesis Pathway [NCIt concept]
- Insulin Resistance Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Propanoate Metabolism Pathway [NCIt concept]
- Pyruvate Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Fatty Acid Metabolism [NCIt concept]
- Triglyceride Metabolism [NCIt concept]

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

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