L2HDGH associated with the mitochondrial inner membrane cata...

created [InstanceEdit:880051] D'Eustachio, P, 2010-06-25
dbId 880036
displayName L2HDGH associated with the mitochondrial inner membrane cata...
schemaClass Summation
text L2HDGH associated with the mitochondrial inner membrane catalyzes the FAD-dependent reaction of (S)-2-hydroxyglutarate to form 2-oxoglutarate (Rzem et al. 2006). L2HDGH mutations are associated with high levels of (S)-2-hydroxyglutarate in vivo and variable neurological symptoms (Rzem et al. 2004; Topcu et al. 2004).
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