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 (53) 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
$6,749.58
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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
$6,749.58
Détails
HEK-293 Cells Humain Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Connectez-vous pour afficher 11 Days
$888.80
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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
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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. In this study, we describe a large pedigree from Pakistan showing multiple neurological symptoms. Homozygosity mapping and Sanger sequencing revealed a novel missense mutation in L2HGDH gene.

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

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

  4. 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.

  5. modest increases in intracellular 2-HG in acute myeloid leukaemia cells, as seen with the rs11554137 SNP, might enhance chemoresistance, or promote acquisition of leukaemia-iniating mutations

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

  7. Report three unrelated Tunisian families containing seven patients with L2HGA mutations and inter-familial phenotype variability.

  8. L2HGDH mutation is not associated with glioblastoma.

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

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

  11. analysis of genetic heterogeneity in D-2-hydroxyglutaric aciduria

  12. The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated.

  13. 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.

  14. encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin

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

  16. Indicate that 2-ketoglutaric acid is the metabolic precursor of L-2-hydrosyglutaric acid in L-2-hydroxyglutaric acid aciduria.

  17. We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD and levocarnitine.

  18. Data show that L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene in exon 3 (c.292C-->T) and in exon 7 (c.887T-->A).

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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