InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: L2HGDH

Summary

InnateDB Protein

IDBP-5945.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

L2HGDH

Protein Name

L-2-hydroxyglutarate dehydrogenase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000267436

InnateDB Gene

IDBG-5941 (L2HGDH)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Mitochondrion {ECO:0000269PubMed:16005139}.

Disease Associations

L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]: 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. {ECO:0000269PubMed:15385440, ECO:0000269PubMed:15548604, ECO:0000269PubMed:16134148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:15385440}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016491	oxidoreductase activity
GO:0047545	2-hydroxyglutarate dehydrogenase activity

Biological Process

GO:0006103	2-oxoglutarate metabolic process
GO:0044237	cellular metabolic process
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule 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