Tbio L2HGDH L-2-hydroxyglutarate dehydrogenase, mitochondrial

Protein Summary

Description

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]

Uniprot Accession IDs

• Q9H9P8
• Q9BRR1

Gene Name

• L2HGDH

Ensembl ID

• ENST00000267436
• ENSP00000267436
• ENSG00000087299
• ENST00000421284
• ENSP00000405559

Symbol

• C14orf160
• L2HGA
• C14orf160

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.93
disease perturbation	0.74
microRNA	0.74
cellular component	0.68
tissue sample	0.68

Protein Classes

PANTHER Classes

Protein / Oxidoreductase / Oxidase / L-2-hydroxyglutarate Dehydrogenase, Mitochondrial

Protein / Oxidoreductase / Dehydrogenase / L-2-hydroxyglutarate Dehydrogenase, Mitochondrial

DTO Classes

Protein / Enzyme / Oxidoreductase / Dehydrogenase / L-2-hydroxyglutarate Dehydrogenase, Mitochondrial

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 57.03   (req: < 5)

Gene RIFs: 22   (req: <= 3)

Antibodies: 163   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 57.03   (req: >= 5)

Gene RIFs: 22   (req: > 3)

Antibodies: 163   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0