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| Cat.No | ACP03212 | Target Name | L2HGDH |
|---|---|---|---|
| Target Synonyms | mitochondrial; L2HDH_HUMAN; l2hgdh; mitochondrial | Form | Liquid or Lyophilized powder |
| Expression System | E.coli | Expression Range | 52-463aa |
| Mol Weight | 61.3kDa | Protein Length | Full Length of Mature Protein |
| Purity | Greater than 90% as determined by SDS-PAGE. | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q9H9P8 |
|---|
Uniprot Id
Q9H9P8
Target Species
Human
Target Name
L2HGDH
Target Full Name
L-2-hydroxyglutarate dehydrogenase, mitochondrial
Target Involvement
L-2-hydroxyglutaric aciduria (L2HGA)
Target Subcellular Location
Mitochondrion.
Target Protein Families
L2HGDH family
Target Tissue Specificity
Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow.
Target Research Area
Cell Biology
Target Synonyms
2 hydroxyglutarate dehydrogenase; Alpha hydroxyglutarate oxidoreductase; Alpha ketoglutarate reductase; C14orf160; Duranin; FLJ12618; L alpha hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L2HDH_HUMAN; l2hgdh; mitochondrial
Target Background
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 cognitive disability.
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