L2HGDH Antibody – Rabbit Polyclonal

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]

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: Oxidoreductase; Mitochondrial; Carbohydrate Metabolism - butanoate; EC 1.1.99.2

Chromosomal Location of Human Ortholog: 14q21.3

Cellular Component: integral to membrane; integral to mitochondrial inner membrane; mitochondrial inner membrane; mitochondrion

Molecular Function: 2-hydroxyglutarate dehydrogenase activity

Biological Process: 2-oxoglutarate metabolic process; cellular metabolic process; cellular protein metabolic process

Disease: L-2-hydroxyglutaric Aciduria