L2HGDH

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L-2-hydroxyglutarate dehydrogenase
Identifiers
Symbols L2HGDH ; C14orf160
External IDs OMIM609584 MGI2384968 HomoloGene11767 GeneCards: L2HGDH Gene
EC number 1.1.99.2
RNA expression pattern
PBB GE L2HGDH 220089 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79944 217666
Ensembl ENSG00000087299 ENSMUSG00000020988
UniProt Q9H9P8 Q91YP0
RefSeq (mRNA) NM_024884 NM_145443
RefSeq (protein) NP_079160 NP_663418
Location (UCSC) Chr 14:
50.7 – 50.78 Mb
Chr 12:
69.69 – 69.72 Mb
PubMed search [1] [2]

L-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the L2HGDH gene.[1][2]

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.[2]

See also[edit]

References[edit]

  1. ^ Rzem R, Van Schaftingen E, Veiga-da-Cunha M (Nov 2005). "The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase". Biochimie 88 (1): 113–6. doi:10.1016/j.biochi.2005.06.005. PMID 16005139. 
  2. ^ a b "Entrez Gene: L2HGDH L-2-hydroxyglutarate dehydrogenase". 

Further reading[edit]