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Human Disease and Mouse Model Detail
Human Disease

Term: Pyruvate Dehydrogenase E2 Deficiency; PDHDD
OMIM ID: 245348

Synonyms Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Dlat DLAT
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory