L-2-Hydroxyglutarate Dehydrogenase Protéines (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. De plus, nous expédions L2HGDH Anticorps (51) et L2HGDH Kits (5) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
Rat L2HGDH L2HGDH 314196  
L2HGDH 79944 Q9H9P8
L2HGDH 217666 Q91YP0
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Showing 5 out of 5 products:

Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$6,869.04
Détails
Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$6,869.04
Détails
HEK-293 Cells Humain Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Connectez-vous pour afficher Disponible
$547.80
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Wheat germ Humain GST tag 2 μg Connectez-vous pour afficher 11 to 12 Days
$338.33
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Levure Boeuf (Vache) His tag   1 mg Connectez-vous pour afficher 60 to 71 Days
$3,142.33
Détails

L2HGDH Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human , ,
, ,
Mouse (Murine)

Plus protéines pour L-2-Hydroxyglutarate Dehydrogenase (L2HGDH) partenaires d'interaction

Human L-2-Hydroxyglutarate Dehydrogenase (L2HGDH) interaction partners

  1. The mutations of the L2HGDH gene as the causes of L-2-hydroxyglutaric aciduria.

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

  3. 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.

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

  5. L2HGDH mutation is not associated with glioblastoma.

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

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

  8. 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.

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

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

Mouse (Murine) L-2-Hydroxyglutarate Dehydrogenase (L2HGDH) interaction partners

  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.

Profil protéine L2HGDH

Profil protéine

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.

Gene names and symbols associated with L2HGDH

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

Protein level used designations for L2HGDH

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

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