D2HGDH Chromosome 2
D-2-hydroxyglutarate dehydrogenase
Upload your DNA to see your personal genotypes for variants in D2HGDH.
What This Gene Does
This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000180902
Associated Conditions (4)
D-2-hydroxyglutaric aciduria 1
Inborn genetic diseases
D2HGDH-related disorder
D-2-hydroxyglutaric aciduria
Key Variants
RS112424377
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1
Health Risk
RS140447217
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS141475702
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1
Health Risk
RS141524359
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS142624021
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1
Health Risk
RS143231454
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS143460342
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS146408017
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS146482048
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS149504235
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS149628174
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS1575278743
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2549948325 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS749330477 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS752626142 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797045506 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria |
| RS142050154 | Health Risk | Pathogenic/Likely pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS753528947 | Health Risk | Pathogenic/Likely pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |