ACAT1 wt Allele

Preferred Label : ACAT1 wt Allele;

NCIt synonyms : Acetyl-CoA Acetyltransferase, Mitochondrial Gene; ACAT; Acetoacetyl-CoA Thiolase, Mitochondrial Gene; THIL; Acetoacetyl-CoA Thiolase Gene; T2; Acetoacetyl Coenzyme A Thiolase Gene; MAT; Acetyl-CoA Acetyltransferase 1 wt Allele; Mitochondrial Acetoacetyl-CoA Thiolase Gene; Acetyl-Coenzyme A Acetyltransferase 1 Gene;

NCIt definition : Human ACAT1 wild-type allele is located in the vicinity of 11q22.3 and is approximately 31 kb in length. This allele, which encodes acetyl-CoA acetyltransferase, mitochondrial protein, is involved in the conversion of fatty acids into acetyl-CoA. Loss of function mutations in the gene are associated with alpha-methylacetoacetic aciduria.;

NCI Metathesaurus CUI : CL1799164;

GenBank Accession Number : D90228;

Details

Origin ID

C190584;

UMLS CUI

C5780814;

Automatic exact mappings (from CISMeF team)
- Multifocal atrial tachycardia [ORDO Disease]
- T2 tumor stage [Radlex concept]
- [acyl-carrier-protein] S-malonyltransferase activity [GO term]
- methionine adenosyltransferase 1A [ORDO Gene]
Currated CISMeF NLP mapping
- Acetyl-coa acetyltransferase 1 [OMIM gene]
- acetyl-CoA acetyltransferase 1 [ORDO Gene]
OMIM relation
- Acetyl-coa acetyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q22.3 [NCIt concept]
gene_is_element_in_pathway
- Butanoate Metabolism Pathway [NCIt concept]
- Fatty Acid Metabolism Pathway [NCIt concept]
- Glyoxylate and Dicarboxylate Metabolism Pathway [NCIt concept]
- Lysine Degradation Pathway [NCIt concept]
- Pyruvate Metabolism Pathway [NCIt concept]
- Terpenoid Biosynthesis Pathway [NCIt concept]
- Tryptophan Metabolism Pathway [NCIt concept]
- Valine, Leucine and Isoleucine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Acetylation [NCIt concept]
- Catabolic Process [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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