Description: Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_024884): 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 cognitive disability. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr14:50,709,152-50,778,947 Size: 69,796 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr14:50,713,776-50,778,868 Size: 65,093 Coding Exon Count: 10
ID:L2HDH_HUMAN DESCRIPTION: RecName: Full=L-2-hydroxyglutarate dehydrogenase, mitochondrial; EC=1.1.99.2; AltName: Full=Duranin; Flags: Precursor; CATALYTIC ACTIVITY: (S)-2-hydroxyglutarate + acceptor = 2- oxoglutarate + reduced acceptor. COFACTOR: FAD. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=800 uM for L-2-hydroxyglutarate; SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. DISEASE: Defects in L2HGDH are the cause of L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]. L2HGA is a rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. MISCELLANEOUS: Was named 'duranin' in honor of Marinus Duran, who first described L-2-hydroxyglutaric aciduria. SIMILARITY: Belongs to the L2HGDH family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/L2HGDH";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H9P8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006103 2-oxoglutarate metabolic process GO:0044267 cellular protein metabolic process GO:0055114 oxidation-reduction process
Cellular Component: GO:0005739 mitochondrion GO:0005743 mitochondrial inner membrane GO:0016021 integral component of membrane GO:0031305 integral component of mitochondrial inner membrane
Descriptions from all associated GenBank mRNAs
BC006117 - Homo sapiens L-2-hydroxyglutarate dehydrogenase, mRNA (cDNA clone MGC:12994 IMAGE:3504996), complete cds. JF432174 - Synthetic construct Homo sapiens clone IMAGE:100073328 L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene, encodes complete protein. KJ903253 - Synthetic construct Homo sapiens clone ccsbBroadEn_12647 L2HGDH gene, encodes complete protein. KR710070 - Synthetic construct Homo sapiens clone CCSBHm_00009296 L2HGDH (L2HGDH) mRNA, encodes complete protein. KR710071 - Synthetic construct Homo sapiens clone CCSBHm_00009301 L2HGDH (L2HGDH) mRNA, encodes complete protein. KR710072 - Synthetic construct Homo sapiens clone CCSBHm_00009304 L2HGDH (L2HGDH) mRNA, encodes complete protein. KR710073 - Synthetic construct Homo sapiens clone CCSBHm_00009306 L2HGDH (L2HGDH) mRNA, encodes complete protein. LF384855 - JP 2014500723-A/192358: Polycomb-Associated Non-Coding RNAs. AK292627 - Homo sapiens cDNA FLJ76725 complete cds, highly similar to Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), mRNA. AK022680 - Homo sapiens cDNA FLJ12618 fis, clone NT2RM4001666, weakly similar to HYPOTHETICAL 48.6 KD PROTEIN IN ALPA-GABP INTERGENIC REGION. AY757363 - Homo sapiens putative L-2-hydroxyglutarate dehydrogenase (L2HGDH) mRNA, complete cds. MA620432 - JP 2018138019-A/192358: Polycomb-Associated Non-Coding RNAs. JD203248 - Sequence 184272 from Patent EP1572962. JD203247 - Sequence 184271 from Patent EP1572962. JD214362 - Sequence 195386 from Patent EP1572962. JD457573 - Sequence 438597 from Patent EP1572962. JD293525 - Sequence 274549 from Patent EP1572962. JD293524 - Sequence 274548 from Patent EP1572962. JD518536 - Sequence 499560 from Patent EP1572962. JD518535 - Sequence 499559 from Patent EP1572962. JD446574 - Sequence 427598 from Patent EP1572962. JD457164 - Sequence 438188 from Patent EP1572962. JD335361 - Sequence 316385 from Patent EP1572962. JD442954 - Sequence 423978 from Patent EP1572962. JD532258 - Sequence 513282 from Patent EP1572962. JD446573 - Sequence 427597 from Patent EP1572962. JD558765 - Sequence 539789 from Patent EP1572962. JD430944 - Sequence 411968 from Patent EP1572962. JD118440 - Sequence 99464 from Patent EP1572962. JD326919 - Sequence 307943 from Patent EP1572962. JD388337 - Sequence 369361 from Patent EP1572962. JD247807 - Sequence 228831 from Patent EP1572962. JD335360 - Sequence 316384 from Patent EP1572962. JD131894 - Sequence 112918 from Patent EP1572962. JD279578 - Sequence 260602 from Patent EP1572962. JD499296 - Sequence 480320 from Patent EP1572962. JD277639 - Sequence 258663 from Patent EP1572962. JD508280 - Sequence 489304 from Patent EP1572962. JD295497 - Sequence 276521 from Patent EP1572962. JD092913 - Sequence 73937 from Patent EP1572962. JD373897 - Sequence 354921 from Patent EP1572962. JD214535 - Sequence 195559 from Patent EP1572962. JD241995 - Sequence 223019 from Patent EP1572962. JD553895 - Sequence 534919 from Patent EP1572962. JD078948 - Sequence 59972 from Patent EP1572962. JD056106 - Sequence 37130 from Patent EP1572962. JD179073 - Sequence 160097 from Patent EP1572962. JD421456 - Sequence 402480 from Patent EP1572962. JD526611 - Sequence 507635 from Patent EP1572962. JD514912 - Sequence 495936 from Patent EP1572962. AK309294 - Homo sapiens cDNA, FLJ99335. CU675259 - Synthetic construct Homo sapiens gateway clone IMAGE:100019415 5' read L2HGDH mRNA. JD541042 - Sequence 522066 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00650 - Butanoate metabolism
Reactome (by CSHL, EBI, and GO)
Protein Q9H9P8 (Reactome details) participates in the following event(s):
R-HSA-880050 (S)-2-hydroxyglutarate + FAD => 2-oxoglutarate + FADH2 R-HSA-880009 Interconversion of 2-oxoglutarate and 2-hydroxyglutarate R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport R-HSA-1430728 Metabolism