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Gene : D2HGDH Homo sapiens

Name  ? D-2-hydroxyglutarate dehydrogenase Cytological Location  2q37.3
Brief Description  D-2-hydroxyglutarate dehydrogenase
Description  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]
  • synonyms:
  • D2HGD,
  • OTTHUMG00000151474,
  • uc002wce.3,
  • FLJ42195,
  • D2HGDH,
  • HGNC:28358,
  • MGC25181,
  • NM_152783,
  • D2HGD,
  • AK091725
  • identifiers:
  • 728294,
  • ENSG00000180902,
  • D2HGDH

Genome feature

Region: gene ? Length: 34188  
Location: 2:241734629-241768816 Cyto location: 2q37.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

3753 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results