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  3. L2HGDH - L-2-hydroxyglutarate dehydrogenase Gene

L2HGDH - L-2-hydroxyglutarate dehydrogenase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：L-2-羟基戊二酸脱氢酶

种属: Homo sapiens

同用名: L2HGA; C14orf160

基因 ID: 79944 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 L-2-羟基戊二酸脱氢酶，这是一种 FAD 依赖性酶，可在多种哺乳动物组织中将 L-2-羟基戊二酸氧化为 α-酮戊二酸。该基因的突变会导致 L-2-羟基戊二酸尿症，这是一种罕见的常染色体隐性神经代谢疾病，会导致中度至重度认知障碍。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_024884.3 NP_079160.1 L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 2-hydroxyglutarate dehydrogenase activity EXP
EXP: 通过实验结果推断
16005139 GOA
enables 2-hydroxyglutarate dehydrogenase activity IDA
IDA: 通过直接分析推断
16005139 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in small molecule metabolic process IDA
IDA: 通过直接分析推断
16005139 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
16005139 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
16005139 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

L2HGDH 蛋白结构

DAO

DAO: FAD dependent oxidoreductase (50 - 424)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 463 a.a.
蛋白主名 其他名称

L-2-hydroxyglutarate dehydrogenase, mitochondrial

2-hydroxyglutarate dehydrogenase

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07483 L2HGDH Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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