L2HGDH - L-2-hydroxyglutarate dehydrogenase Gene

Homo sapiens

Also known as L2HGA; C14orf160

Gene ID: 79944 | Gene type: protein coding

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

L2HGDH Protein Structure

DAO

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07483	L2HGDH Human Pre-designed siRNA Set A		/	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

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