L2HGDH
L2HGDH (L-2-hydroxyglutarate dehydrogenase, also known as FLJ12618 or C14orf160) is a mitochondrial, FAD-dependent enzyme that oxidises L-2-hydroxyglutarate to 2-oxoglutarate. Mutations in the L2HGDH gene cause L-2-hydroxyglutaric aciduria, a rare neurometabolic disorder. Browse Assay Genie's current range of L2HGDH research reagents below, or read on for the biology behind the target.
L2HGDH catalyses the oxidation of L-2-hydroxyglutarate to 2-oxoglutarate, also called alpha-ketoglutarate. It is a FAD-dependent enzyme, and the reaction it performs converts L-2-hydroxyglutarate into a central metabolic intermediate. According to the NCBI Gene summary, this activity occurs in a variety of mammalian tissues. UniProt places the protein in the mitochondrion, and it is classed as a member of the L2HGDH family.
The human L2HGDH gene encodes a mitochondrial protein, listed by HGNC within the flavoprotein gene group, consistent with its FAD dependence. HGNC also lists it among the microRNA protein coding host genes. The mouse ortholog is L2hgdh, which is relevant for researchers who study the enzyme in murine models. Researchers working with the L2HGDH protein, L2HGDH antibody or L2HGDH ELISA kit formats should consider this mitochondrial localisation when planning experiments.
The gene was previously named chromosome 14 open reading frame 160 (C14orf160), and FLJ12618 is a further alias. Its disease relevance is well defined: mutations in the L2HGDH gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder that results in moderate to severe cognitive disability. This link makes L2HGDH a useful target for studies of L-2-hydroxyglutarate metabolism and of the biochemical basis of this disorder.
Mutations in L2HGDH cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive disorder with moderate to severe cognitive disability.
L2HGDH oxidises L-2-hydroxyglutarate to 2-oxoglutarate, making it central to studies of how this metabolite is cleared.
As a mitochondrial FAD-dependent enzyme of the L2HGDH family, it is a model for flavoprotein dehydrogenase function.
The mouse ortholog L2hgdh allows investigation of enzyme function and its tissue activity in mammalian systems.
L2HGDH catalyses the oxidation of L-2-hydroxyglutarate to 2-oxoglutarate (alpha-ketoglutarate). It is a FAD-dependent enzyme that acts in a variety of mammalian tissues, and UniProt locates it in the mitochondrion.
L2HGDH is the HGNC symbol for L-2-hydroxyglutarate dehydrogenase. Aliases include FLJ12618 and C14orf160, the latter from the previous name chromosome 14 open reading frame 160. UniProt lists the protein as mitochondrial, and the enzyme is EC 1.1.99.2.
Yes. Mutations in the L2HGDH gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder. The mouse ortholog is L2hgdh; check the datasheet of any product for its validated reactivity.
Other mitochondrial enzymes, flavoproteins and metabolic disease targets with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q9H9P8; product specifications from Assay Genie datasheets.