L2HGDH

GENE INFORMATION

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Gene name

L2HGDH (HGNC Symbol)

Synonyms

C14orf160, FLJ12618

Description

L-2-hydroxyglutarate dehydrogenase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

14

Cytoband

q21.3

Chromosome location (bp)

50237563 - 50312548

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000087299 (version 78.38)

Entrez gene

79944

UniProt

Q9H9P8 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H9P8

Antibodypedia

L2HGDH antibodies
 

PROTEIN VIEW

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L2HGDH-001
 
L2HGDH-002
 
L2HGDH-003
 
L2HGDH-004
 
L2HGDH-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

L2HGDH-001 ENSP00000267436
ENST00000267436
Q9H9P8
Show all »
Show » Show » 463 50.3 No 0
L2HGDH-002 ENSP00000261699
ENST00000261699
C9JVN9
Show all »
Show » Show » 441 48.5 No 0
L2HGDH-003 ENSP00000405559
ENST00000421284
Q9H9P8
Show all »
Show » Show » 463 50.3 No 0
L2HGDH-004 ENSP00000450494
ENST00000555423
G3V272
Show all »
Show » Show » 236 25.2 No 0
L2HGDH-007 ENSP00000452483
ENST00000555610
G3V5S1
Show all »
Show » Show » 211 22.5 No 0