L2HGDH Chromosome 14
L-2-hydroxyglutarate dehydrogenase
Upload your DNA to see your personal genotypes for variants in L2HGDH.
What This Gene Does
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 cognitive disability. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Flavoproteins"
Locus Type
gene with protein product
Location
14q21.3
Ensembl
ENSG00000087299
Associated Conditions (4)
L-2-hydroxyglutaric aciduria
Inborn genetic diseases
L2HGDH-related disorder
Abnormality of metabolism/homeostasis
Key Variants
RS138070052
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS141715606
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS147866347
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS148241854
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS150157112
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS369101323
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS373172891
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L2HGDH-related disorder, L-2-hydroxyglutaric aciduria
Health Risk
RS375890787
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS377734247
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS564306903
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS749417358
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS757615298
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118204020 | Health Risk | Pathogenic/Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS118204021 | Health Risk | Pathogenic/Likely pathogenic | L-2-hydroxyglutaric aciduria, L2HGDH-related disorder, L-2-hydroxyglutaric aciduria |
| RS150299874 | Health Risk | Pathogenic/Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2502472420 | Health Risk | Pathogenic/Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS267607206 | Health Risk | Pathogenic/Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |