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Human Disease and Mouse Model Detail
Human Disease Pyruvate Carboxylase Deficiency
OMIM ID: 266150
Synonyms Ataxia with Lactic Acidosis II; Leigh Necrotizing Encephalopathy Due to Pyruvate Carboxylase Deficiency; Leigh Syndrome Due to Pyruvate Carboxylase Deficiency; PC Deficiency
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     PC* Pcx   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory