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.
Categories
Primary Antibodies
Clonality
polyclonal
Host
Rabbit
Immunogen
L-2-hydroxyglutarate dehydrogenase
Isotype
IgG
Molecular Weight
40 kDa
Reactivity
Human, Mouse
Regulatory
RUO
Synonyms
C14orf160
Uniprot
Q9H9P8
Gene Id
79944
Research Area
Metabolism
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)