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L2HGDH L-2-hydroxyglutarate dehydrogenase

Also known as: L2HGA; C14orf160

Summary

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
L-2-hydroxyglutaric aciduria
MedGen: C1855995OMIM: 236792GeneReviews: Not available
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Genomic context

Location:
14q21.3
Sequence:
Chromosome: 14; NC_000014.9 (50242434..50312235, complement)
Total number of exons:
16

Links

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