Identity
HGNC
LOCATION
14q21.3
LOCUSID
ALIAS
C14orf160,L2HGA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79944
MIM: 609584
HGNC: 20499
Ensembl: ENSG00000087299
Variants:
dbSNP: 79944
ClinVar: 79944
TCGA: ENSG00000087299
COSMIC: L2HGDH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37378753 | 2023 | Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. | 0 |
| 37378753 | 2023 | Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. | 0 |
| 32101699 | 2020 | MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome. | 12 |
| 32101699 | 2020 | MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome. | 12 |
| 29458334 | 2018 | Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. | 7 |
| 29980873 | 2018 | A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. | 3 |
| 30217188 | 2018 | Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. | 6 |
| 29458334 | 2018 | Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. | 7 |
| 29980873 | 2018 | A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. | 3 |
| 30217188 | 2018 | Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. | 6 |
| 26829733 | 2016 | [Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. | 2 |
| 26829733 | 2016 | [Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. | 2 |
| 24573090 | 2014 | Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. | 8 |
| 24606602 | 2014 | Elevated plasma 2-hydroxyglutarate in acute myeloid leukaemia: association with the IDH1 SNP rs11554137 and severe renal impairment. | 1 |
| 24573090 | 2014 | Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. | 8 |
Citation
Dessen P
L2HGDH (L-2-hydroxyglutarate dehydrogenase)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/50477/l2hgdh
