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MGP005942

Record overview

MGPD IDMGP005942
Gene ID79944
SpeciesHomo sapiens (Human)
Gene NameL-2-hydroxyglutarate dehydrogenase
Gene Symbol L2HGDH
SynonymsC14orf160;
Alternate namesL-2-hydroxyglutarate dehydrogenase, mitochondrial; 2-hydroxyglutarate dehydrogenase; L-alpha-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; duranin;
Chromosome14
Map Location14q21.3
EC Number1.1.99.2
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, Jul 2008]
OrthologsView orthologs and multiple alignments for L2HGDH

Proteins

L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor
Refseq ID:NP_079160
Protein GI:13376331
UniProt ID:Q9H9P8
mRNA ID:NM_024884
Length:463
RefSeq Status:
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSG
IYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVAL
SFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNI
YPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRG
PAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
 
transit_peptide: 1..51
calculated_mol_wt: 5047
peptide sequence: 
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDI

mat_peptide: 52..463
product: L-2-hydroxyglutarate dehydrogenase, mitochondrial
calculated_mol_wt: 45288
peptide sequence: 
VIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQA
LYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIR
CQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDI
IINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISG
MIADEVQQRFEL
 
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