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Human Disease and Mouse Model Detail
Human Disease Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 2;
OMIM ID: 614052
Synonyms Encephalocardiomyopathy, Mitochondrial, Neonatal, Due to Atp Synthase Deficiency; Mc5dn2; Mitochondrial Complex Deficiency; Mitochondrial Complex V (atp Synthase) Deficiency, Tmem70 Type
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
     Tmem70 TMEM70*   1:1 Homology

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
09/09/2014
MGI 5.19
The Jackson Laboratory