PC wt Allele - CISMeF

Preferred Label : PC wt Allele;

NCIt synonyms : PCB; Pyruvate Carboxylase wt Allele;

NCIt definition : Human PC wild-type allele is located in the vicinity of 11q13.2 and is approximately 110 kb in length. This allele, which encodes pyruvate carboxylase, mitochondrial protein, plays a role in gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Loss of function mutations in the gene are associated with pyruvate carboxylase deficiency.;

NCI Metathesaurus CUI : CL1798935;

GenBank Accession Number : U04641;

Details

Origin ID

C190380;

UMLS CUI

C5781381;

Automatic exact mappings (from CISMeF team)
- Polychlorinated biphenyl [ICD-11 Extension code]
- Polychlorinated biphenyl (PCB) [LOINC component]
- Polychlorinated biphenyl (substance) [SNOMED CT concept]
OMIM relation
- Pyruvate carboxylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Pyruvate carboxylase [OMIM gene]
- pyruvate carboxylase [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q13.2 [NCIt concept]
gene_is_element_in_pathway
- Citrate Cycle (TCA Cycle) Pathway [NCIt concept]
- Pyruvate Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Gluconeogenic Process [NCIt concept]
- Glycolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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