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L2-Hydroxyglutarate Dehydrogenase (L2HGDH)

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C14orf160; Duranin

L2-Hydroxyglutarate Dehydrogenase (L2HGDH)
CCC J511
HGNC 20499
MGI 2384968
PubMed 19911013
RGD 1306250
UniProt Q9H9P8
Wiki L2HGDH
L2HGDHencodes 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.
L2HGDH is expressed in multiple tissues, with strongest expression in brain, followed by testis and muscle. Expression was weaker in lymphocytes, fibroblasts, keratinocytes, and placenta, and weakest in bladder, small intestine, liver, and bone marrow.L2HGDH gene is composed of 10 exons. Mouse and rat orthologs have similar organization.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for L2-Hydroxyglutarate Dehydrogenase (L2HGDH) CLIA Kit Customized Service Offer
n/a ELISA Kit for L2-Hydroxyglutarate Dehydrogenase (L2HGDH) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for L2-Hydroxyglutarate Dehydrogenase (L2HGDH) CLIA Kit Customized Service Offer
n/a ELISA Kit for L2-Hydroxyglutarate Dehydrogenase (L2HGDH) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to L2-Hydroxyglutarate Dehydrogenase (L2HGDH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for L2-Hydroxyglutarate Dehydrogenase (L2HGDH) CLIA Kit Customized Service Offer
n/a ELISA Kit for L2-Hydroxyglutarate Dehydrogenase (L2HGDH) ELISA Kit Customized Service Offer
  1. "A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria."Proc. Natl. Acad. Sci. U.S.A. 101:16849-16854(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2-hydroxyglutarate dehydrogenase."Biochimie 88:113-116(2006) [PubMed] [Europe PMC] [Abstract]
  6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  7. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  9. "L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1."Hum. Mol. Genet. 13:2803-2811(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin." Hum. Mutat. 26:395-396(2005) [PubMed] [Europe PMC] [Abstract]