L2HGDH

L2HGDH
Identifiers
Aliases	L2HGDH, C14orf160, L2HGA, L-2-hydroxyglutarate dehydrogenase
External IDs	MGI: 2384968 HomoloGene: 11767 GeneCards: L2HGDH
Gene ontology Molecular function • oxidoreductase activity • 2-hydroxyglutarate dehydrogenase activity Cellular component • integral component of membrane • mitochondrial inner membrane • mitochondrion • integral component of mitochondrial inner membrane Biological process • cellular protein metabolic process • oxidation-reduction process • 2-oxoglutarate metabolic process Sources:Amigo / QuickGO
RNA expression pattern
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_663418.1 NP_663418
Location (UCSC)	Chr 14: 50.24 – 50.31 Mb	Chr 12: 69.69 – 69.72 Mb
PubMed search

79944

217666

ENSG00000087299

ENSMUSG00000020988

Q9H9P8

Q91YP0

NM_024884

NM_145443

NP_079160

NP_663418.1
NP_663418

L-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the L2HGDH gene, also known as C14orf160, on chromosome 14.

This gene encodes L-2-hydroxyglutarate dehydrogenase, a flavin adenine dinucleotide (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.

L2HGDH codes for a protein that is 50 kDa in size. The L2HGDH protein contains a mitochondrial-targeting transit peptide and is localized to the inside inside the cell. The L2HGDH protein catalyzes the following reaction, and requires flavin adenine dinucleotide (FAD) as a co-factor:

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Wikipedia