propionyl-coa carboxylase deficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. (Human Disease Ontology, DOID_14701)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003353
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Genes

3 genes associated with the propionyl-coa carboxylase deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide