NP_079160.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
31.100 kDa
NCBI Official Full Name
L-2-hydroxyglutarate dehydrogenase, mitochondrial
NCBI Official Synonym Full Names
L-2-hydroxyglutarate dehydrogenase
NCBI Protein Information
L-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Protein Name
L-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Synonym Protein Names
Duranin
UniProt Synonym Gene Names
NCBI Summary for L2HGDH
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 mental retardation. [provided by RefSeq, Jul 2008]
UniProt Comments for L2HGDH
L2HGDH: Defects in L2HGDH are the cause of L-2-hydroxyglutaric aciduria (L2HGA). 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. Belongs to the L2HGDH family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Carbohydrate Metabolism - butanoate; EC 1.1.99.2; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 14q21.3
Cellular Component: integral to membrane; mitochondrial inner membrane; mitochondrion
Molecular Function: 2-hydroxyglutarate dehydrogenase activity
Biological Process: 2-oxoglutarate metabolic process; cellular protein metabolic process
Disease: L-2-hydroxyglutaric Aciduria
Research Articles on L2HGDH
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Products associated with L2HGDH recombinant protein
Pathways associated with L2HGDH recombinant protein
Diseases associated with L2HGDH recombinant protein
Organs/Tissues associated with L2HGDH recombinant protein
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