L-2-Hydroxyglutarate Dehydrogenase Proteine (L2HGDH)

L2HGDH encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Zusätzlich bieten wir Ihnen L2HGDH Antikörper (52) und L2HGDH Kits (5) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
Ratte L2HGDH L2HGDH 314196  
L2HGDH 79944 Q9H9P8
L2HGDH 217666 Q91YP0
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Showing 5 out of 5 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,869.04
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Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,869.04
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HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen Verfügbar
$547.80
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Wheat germ Human GST tag 2 μg Anmelden zum Anzeigen 11 bis 12 Tage
$338.33
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Hefe Rind (Kuh) His tag   1 mg Anmelden zum Anzeigen 60 bis 71 Tage
$3,142.33
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L2HGDH Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , ,
, ,
Mouse (Murine)

Weitere Proteine zu L-2-Hydroxyglutarate Dehydrogenase (L2HGDH) Interaktionspartnern

Human L-2-Hydroxyglutarate Dehydrogenase (L2HGDH) Interaktionspartner

  1. c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family.

  2. Intragenic single nucleotide length polymorphisms and two extragenic microsatellites flanking the L2HGDH gene confirm the founder effect of c.241A>G mutation in the 14 studied cases.

  3. Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds.

  4. L2HGDH mutation is not associated with glioblastoma.

  5. We did not find evidence for mutations in the genes D2HGDH (zeige D2HGDH Proteine) and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours

  6. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy.

  7. we present three novel mutations (Gln197X, Gly211Val and c.540+1 G>A), which increase the present deleterious collection of L2HGDH gene up to 35 mutationsthat we have compiled in this study.

  8. encodes a putative mitochondrial protein (zeige COX6B2 Proteine) with homology to FAD (zeige BRCA2 Proteine)-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin

  9. data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase

  10. We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD (zeige BRCA2 Proteine) and levocarnitine.

Mouse (Murine) L-2-Hydroxyglutarate Dehydrogenase (L2HGDH) Interaktionspartner

  1. L2hgdh mutation leads to l-2-hydroxyglutarate accumulation, leukoencephalopathy, and neurodegeneration in mice.

  2. Data describe a mouse model of L-2-hydroxyglutaric aciduria where mouse with l2hgdh gene deficiency accumulates toxic levels of L-2-hydroxyglutarate mostly in brain and testis and shows significant brain spongiosis and learning deficit.

L2HGDH Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit L2HGDH

  • L-2-hydroxyglutarate dehydrogenase (L2hgdh)
  • L-2-hydroxyglutarate dehydrogenase (L2HGDH)
  • BC016226 Protein
  • C14orf160 Protein
  • RGD1306250 Protein

Bezeichner auf Proteinebene für L2HGDH

L-2-hydroxyglutarate dehydrogenase, mitochondrial , 2-hydroxyglutarate dehydrogenase , L-alpha-hydroxyglutarate dehydrogenase , alpha-hydroxyglutarate oxidoreductase , alpha-ketoglutarate reductase , duranin

GENE ID SPEZIES
314196 Rattus norvegicus
79944 Homo sapiens
217666 Mus musculus
514230 Bos taurus
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