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  Domain Name: BCDHK_Adom3
Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase. Catabolism and synthesis of leucine, isoleucine and valine are finely balanced, allowing the body to make the most of dietary input but removing excesses to prevent toxic build-up of their corresponding keto-acids. This is the butyryl-CoA dehydrogenase, subunit A domain 3, a largely alpha-helical bundle of the enzyme BCDHK. This enzyme is the regulator of the dehydrogenase complex that breaks branched-chain amino-acids down, by phosphorylating and thereby inactivating it when synthesis is required. The domain is associated with family HATPase_c pfam02518 which is towards the C-terminal.
No pairwise interactions found for the domain BCDHK_Adom3

Total Mutations Found: 4
Total Disease Mutations Found: 2
This domain occurred 5 times on human genes (15 proteins).



  BCKDK DEFICIENCY
  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (1 FAMILY)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for BCDHK_Adom3



















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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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