Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Peptide sequence: GSVLTNFEVK GIEMAKESPS RSIDGMQYPI VIKNTKGEEI RCQYVVTCAG
Sequence homology: Cow: 91%; Dog: 86%; Guinea Pig: 86%; Horse: 86%; Human: 100%; Mouse: 79%; Pig: 100%; Rabbit: 86%
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
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