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- Table of Contents
Facts about L-2-hydroxyglutarate dehydrogenase, mitochondrial.
Human | |
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Gene Name: | L2HGDH |
Uniprot: | Q9H9P8 |
Entrez: | 79944 |
Belongs to: |
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L2HGDH family |
2-hydroxyglutarate dehydrogenase; alpha-ketoglutarate reductase; C14orf160alpha-hydroxyglutarate oxidoreductase; chromosome 14 open reading frame 160; DURANIN; EC 1.1.99.2; FLJ12618; L-2-hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase
Mass (kDA):
50.316 kDA
Human | |
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Location: | 14q21.3 |
Sequence: | 14; NC_000014.9 (50242434..50312229, complement) |
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.
Mitochondrion.
PMID: 15548604 by Rzem R., et al. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
PMID: 16005139 by Rzem R., et al. The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2- hydroxyglutarate dehydrogenase.