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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for L2HGDH (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID79944
Official gene symbolL2HGDH
Full nameL-2-hydroxyglutarate dehydrogenase
Aliases,C14orf160,DURANIN,FLJ12618,
Gene summaryThis 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]
LocationChromosome: 14   Locus: 14q21.3
Gene position50778947 - 50709152  Map Viewer
Gene orientationminus
Gene size69796 bp
Gene sequence
OMIM ID609584