L2HGDH

Identifiers

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

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