PDHX wt Allele

Preferred Label : PDHX wt Allele;

NCIt synonyms : PDX1; OPDX; E3BP; Pyruvate Dehydrogenase Complex, Component X Gene; Pyruvate Dehydrogenase Complex Component X wt Allele; PDHXD; DLDBP; proX;

NCIt definition : Human PDHX wild-type allele is located in the vicinity of 11p13 and is approximately 105 kb in length. This allele, which encodes pyruvate dehydrogenase protein X component, mitochondrial protein, is involved in the regulation of pyruvate dehydrogenase activity. Mutation of the gene is associated with lactic acidosis due to pyruvate dehydrogenase E3-binding protein deficiency.;

NCI Metathesaurus CUI : CL555949;

GenBank Accession Number : U82328;

Details

Origin ID

C155318;

UMLS CUI

C4723952;

Automatic exact mappings (from CISMeF team)
- Pancreas/duodenum homeobox protein 1 [OMIM gene]
- Pyruvate dehydrogenase complex, component X [OMIM gene]
- Pyruvate dehydrogenase e3-binding protein deficiency [OMIM Phenotype]
- pancreatic and duodenal homeobox 1 [ORDO Gene]
- pyruvate dehydrogenase complex component X [ORDO Gene]
OMIM relation
- Pyruvate dehydrogenase complex, component X [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p13 [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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