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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

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Pcx PC*   1:1 Homology
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
05/08/2013
MGI 5.13 		The Jackson Laboratory