L2HGDH - L-2-hydroxyglutarate dehydrogenase Gene

Also Known as L2HGA; C14orf160

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79944

About L2HGDH

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:50,242,434-50,312,229 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 5.2), fat (RPKM 1.8) and 25 other tissues.

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 cognitive disability. [provided by RefSeq, Jul 2008]

L2HGDH Products (1)

mRNA Protein Name
NM_024884.3 NP_079160.1 L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables 2-hydroxyglutarate dehydrogenase activity EXP
EXP: Inferred from Experiment
16005139 GOA
enables 2-hydroxyglutarate dehydrogenase activity IDA
IDA: Inferred from direct assay
16005139 GOA
Biological Process GO Annotation Evidence References Source
involved in small molecule metabolic process IDA
IDA: Inferred from direct assay
16005139 GOA
Cellular Component GO Annotation Evidence References Source
located in membrane IDA
IDA: Inferred from direct assay
16005139 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
16005139 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

L2HGDH Protein Structure

DAO

DAO: FAD dependent oxidoreductase (50 - 424)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 463 a.a.
Protein Preferred Names Protein Names

L-2-hydroxyglutarate dehydrogenase, mitochondrial

  • 2-hydroxyglutarate dehydrogenase

Related Diseases

Diseases Alias
L-2-Hydroxyglutaric Aciduria

  • L-2-Hydroxyglutaric Acidemia

  • L2HGA

  • L-2-Hga

  • Aciduria, L-2-Hydroxyglutaric

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
2-Hydroxyglutaric Aciduria

  • 2-Hga

  • 2-Hydroxyglutaric Acidemia

  • 2-Hydroxyglutaricaciduria

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
Combined D-2- And L-2-Hydroxyglutaric Aciduria

  • D,L-2-Hydroxyglutaric Aciduria

  • D2L2AD

  • Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

  • Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

  • D,L-2-Hga

  • D,L-2-Hydroxyglutaric Acidemia

  • Combined D,L-2-Hydroxyglutaric Aciduria
D-2-Hydroxyglutaric Aciduria 1

  • D-2-Hydroxyglutaric Aciduria

  • D2HGA1

  • D-2-Hga

  • D-2-Hydroxyglutaric Acidemia

  • D2ha

  • D2hga

  • Aciduria, D-2-Hydroxyglutaric, Type 1

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
D-2-Hydroxyglutaric Aciduria 2

  • D2HGA2

  • D-2-Hydroxyglutaric Aciduria, Type 2
Glutaric Acidemia I

  • Glutaryl-Coa Dehydrogenase Deficiency

  • GA1

  • Glutaric Acidemia Type 1

  • Glutaric Aciduria 1

  • Glutaric Aciduria Type 1

  • Glutaric Acidemia Type I

  • Glutaric Aciduria, Type 1

  • Glutaric Aciduria I

  • Ga I

  • Glutaricaciduria, Type I

  • Glutaryl-Coenzyme A Dehydrogenase Deficiency

  • Glutaric Academia Type 1

  • Glutaric Aciduria Type I

  • Ga-1

  • Gcdh Deficiency

  • Ga 1

  • Glutaric Acidemia 1

  • Gcdhd

  • Glutaric Aciduria, Type I

  • Glutaricaciduria I

  • Ga-I

  • Glutaricaciduria, Type 1
Leukodystrophy, Hypomyelinating, 5

  • Hypomyelination And Congenital Cataract

  • HLD5

  • Hypomyelination-Congenital Cataract Syndrome

  • Hypomyelinating Leukodystrophy 5

  • Hcc

  • Hypomyelination And Congenital Cataract: Hcc

  • Hypomyelination - Congenital Cataract

  • Hypomyelination With Congenital Cataract
Fumarase Deficiency

  • Fumaric Aciduria

  • FMRD

  • Fumarate Hydratase Deficiency

  • Deficiency, Fumarase
Abdominal Obesity-Metabolic Syndrome 1

  • Metabolic Syndrome X

  • Metabolic Syndrome

  • AOMS1

  • Dysmetabolic Syndrome X

  • Metabolic Disease

  • Abdominal Obesity Metabolic Syndrome
Infantile Cerebellar-Retinal Degeneration

  • ICRD

  • Infantile Cerebellar Retinal Degeneration

  • Degeneration, Cerebellar-Retinal, Infantile
Amino Acid Metabolic Disorder

  • Amino Acid Metabolism, Inborn Errors

  • Inborn Errors Of Amino Acid Metabolism

  • Disorder Of Amino Acid Metabolism

  • Amino Acid Metabolism Disorders
Cerebellar Disease

  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07483 L2HGDH Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus L2HGDH RGD RGD:1306250
Canis familiaris L2HGDH VGNC VGNC:50542
Macaca mulatta L2HGDH VGNC VGNC:74090
Mus musculus L2HGDH MGD MGI:2384968
Bos taurus L2HGDH VGNC VGNC:30761
Felis catus L2HGDH VGNC VGNC:63181
Others L2HGDH NCBI