1.8.5.8: eukaryotic sulfide quinone oxidoreductase
This is an abbreviated version!
For detailed information about eukaryotic sulfide quinone oxidoreductase, go to the full flat file.
Reaction
Synonyms
glutathione:CoQ reductase, HMT2, ScSQR, SQOR, SQR, Sqrdl, sulfide : quinone oxidoreductase, sulfide quinone oxidoreductase, sulfide:quinone oxidoreductase
ECTree
Advanced search results
Engineering
Engineering on EC 1.8.5.8 - eukaryotic sulfide quinone oxidoreductase
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
E213K
naturally occuring mutation the mutation affects a residue that is remote from the active site, but predicted to disrupt hydrogen bonding with neighboring arginine residues. The mutation leads to greatly diminished SQOR levels in tissues expressing the E213K mutation
additional information
a patient is homozygous for a single base pair deletion (c446delT) in the SQOR gene, predicted to lead to mRNA degradation or production of nonfunctional enzyme due to the resulting frameshift, SQOR is not detected in fibroblasts carrying the deletion mutation