PDK3 wt Allele

Preferred Label : PDK3 wt Allele;

NCIt synonyms : Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial Gene; Pyruvate Dehydrogenase Kinase, Isoenzyme 3 Gene; PDHK3; GS1-358P8.4; Pyruvate Dehydrogenase Kinase 3 wt Allele; Pyruvate Dehydrogenase Kinase, Isozyme 3 Gene; CMTX6;

NCIt definition : Human PDK3 wild-type allele is located in the vicinity of Xp22.11 and is approximately 85 kb in length. This allele, which encodes [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial protein, plays a role in the regulation of glucose metabolism and aerobic respiration. Mutation of the gene is associated with X-linked dominant Charcot-Marie-Tooth disease type 6.;

NCI Metathesaurus CUI : CL1648458;

GenBank Accession Number : L42452;

Details

Origin ID

C179162;

UMLS CUI

C5551134;

Automatic exact mappings (from CISMeF team)
- Charcot-marie-tooth disease, X-linked dominant, 6 [OMIM Phenotype]
OMIM relation
- Pyruvate dehydrogenase kinase, isoenzyme 3 [OMIM gene]
See also inter- (CISMeF)
- Charcot-Marie-Tooth disease X-linked dominant 6 [DO Concept]
- X-linked Charcot-Marie-Tooth disease type 6 [ORDO Disease]
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_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Cell Respiration [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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