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Human Disease and Mouse Model Detail
Human Disease

Term: Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 2;
OMIM ID: 614052

Synonyms Encephalocardiomyopathy, Mitochondrial, Neonatal, Due to Atp Synthase Deficiency; Mc5dn2; Mitochondrial Complex V (atp Synthase) Deficiency, Tmem70 Type
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...
     
Tmem70 TMEM70
  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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory