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hETHE1 surface analysis

(A) Surface representation of the crystallographically observed hETHE1 dimer (chain A cyan, chain B green). Metal binding residues are shown as sticks. (B) Surface representation of the active site groove showing the side chain of Tyr197 directed towards the metal (6.8 A). The iron ion is shown as an orange sphere. (Source: Pettinati I, Brem J, McDonough MA, Schofield CJ. Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy. Hum Mol Genet 2015;24[9]:2458-69. Creative Commons Attribution [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

Associated Disorders

  • fatty acid oxidation disorder
  • medium-chain acyl-CoA dehydrogenase deficiency
  • metabolic acidosis
  • orthostatic acrocyanosis