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L2HGDH
Belongs to the L2HGDH family. 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. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Carbohydrate Metabolism - butanoate; EC 1.1.99.2; Mitochondrial; Oxidoreductase |
| Chromosomal Location of human Ortholog: 14q21.3 |
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Cellular Component:
membrane; mitochondrial inner membrane; mitochondrion
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Molecular Function:
2-hydroxyglutarate dehydrogenase activity
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Biological Process:
2-oxoglutarate metabolic process; small molecule metabolic process
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Disease: L-2-hydroxyglutaric Aciduria
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Reference #:
Q9H9P8
(UniProtKB)
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Alt. Names/Synonyms: 2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; C14orf160; Duranin; FLJ12618; L-2-hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase; L2HDH; L2HGA; L2HGDH
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Gene Symbols: L2HGDH
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Molecular weight:
50,316 Da
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Basal Isoelectric point:
8.45
Predict pI for various phosphorylation states
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