L2HGDH Back

L-2-hydroxyglutarate dehydrogenase

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NCBI Description of L2HGDH
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 mental retardation.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

L2HGDH is highly significantly mutated in
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L2HGDH is significantly mutated in
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L2HGDH is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for L2HGDH