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  Domain Name: E1_dh
Dehydrogenase E1 component. This family uses thiamine pyrophosphate as a cofactor. This family includes pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase and 2-oxoisovalerate dehydrogenase.
No pairwise interactions found for the domain E1_dh

Total Mutations Found: 19
Total Disease Mutations Found: 18
This domain occurred 4 times on human genes (5 proteins).



  LEIGH SYNDROME, X-LINKED
  MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
  MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA, INCLUDED
  MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
  PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for E1_dh













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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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