L2HGDH Antibody

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. PMID: 29458334
2. The mutations of the L2HGDH gene as the causes of L-2-hydroxyglutaric aciduria. PMID: 29980873
3. c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family. PMID: 26829733
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. PMID: 24573090
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 PMID: 24606602
6. Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds. PMID: 18415700
7. Report three unrelated Tunisian families containing seven patients with L2HGA mutations and inter-familial phenotype variability. PMID: 18780161
8. L2HGDH mutation is not associated with glioblastoma. PMID: 21625441
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 PMID: 20727073
10. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy. PMID: 20852250
11. analysis of genetic heterogeneity in D-2-hydroxyglutaric aciduria PMID: 20020533
12. The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated. PMID: 20052767
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. PMID: 19911013
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 PMID: 15385440
15. data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase PMID: 16005139
16. Indicate that 2-ketoglutaric acid is the metabolic precursor of L-2-hydrosyglutaric acid in L-2-hydroxyglutaric acid aciduria. PMID: 17876720
17. We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD and levocarnitine. PMID: 18362286
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). PMID: 18671189

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HGNC: 20499

OMIM: 236792

KEGG: hsa:79944

STRING: 9606.ENSP00000267436

UniGene: Hs.256034