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
Calculated: 50kDa; 49kDa Observed: 45kDa
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 cognitive disability. [provided by RefSeq, Jul 2008]
UniProt Comments for L2HGDH
MiscellaneousWas named 'duranin' in honor of Marinus Duran, who first described L-2-hydroxyglutaric aciduria.
Research Articles on L2HGDH
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Disclaimer
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Products associated with anti-L2HGDH antibody
Pathways associated with anti-L2HGDH antibody
Diseases associated with anti-L2HGDH antibody
Organs/Tissues associated with anti-L2HGDH antibody
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