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L2HGDH L-2-hydroxyglutarate dehydrogenase

Gene ID: 79944, updated on 11-Jun-2021
Gene type: protein coding
Also known as: L2HGA; C14orf160


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]

Associated conditions

See all available tests in GTR for this gene

Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
GeneReviews: Not available
L-2-hydroxyglutaric aciduria
MedGen: C1855995OMIM: 236792GeneReviews: Not available
See labs

Genomic context

Chromosome: 14; NC_000014.9 (50242434..50312229, complement)
Total number of exons:


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