L-2-hydroxyglutarate dehydrogenase, mitochondrial (duranin, L2HGDH, C14orf160)

Function

(S)-2-hydroxyglutarate + acceptor

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2-oxoglutarate + reduced acceptor

Cofactor: FAD

Kinetic parameters:

• KM=800 uM for L-2-hydroxyglutarate

Compartment

mitochondrion

Alternative splicing

named isoforms=2

Expression

• widely expressed
• highly expressed in brain, testis & muscle
• expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver & bone marrow

Pathology

• defects in L2HGDH are the cause of L-2-hydroxyglutaricaciduria

History

• named 'duranin' in honor of Marinus Duran, who 1st described L-2-hydroxyglutaric aciduria.

More general terms

• dehydrogenase
• mitochondrial protein
• flavoprotein

Database

• OMIM: https://mirror.omim.org/entry/236792
• UniProt: http://www.uniprot.org/uniprot/Q9H9P8.html