D2HGDH - D-2-hydroxyglutarate dehydrogenase Gene

中文名称：D-2-羟基戊二酸脱氢酶

种属: Homo sapiens

同用名: D2HGD

基因 ID: 728294 | 基因类型: protein coding

关于 D2HGDH

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:241,734,630-241,768,811 (from NCBI)

This gene has 16 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 9.9), kidney (RPKM 7.5) and 25 other tissues.

功能概要

该基因编码 D-2 羟基戊二酸脱氢酶，一种属于 FAD 结合氧化还原酶/转移酶 4 型家族的线粒体酶。这种酶在肝脏和肾脏中最活跃，但在心脏和大脑中也很活跃，可将 D-2-羟基戊二酸转化为 2-酮戊二酸。该基因的突变存在于 D-2-羟基戊二酸尿症中，这是一种罕见的隐性神经代谢障碍，可导致发育迟缓、癫痫、肌张力减退和畸形特征。[RefSeq 提供，2008 年 7 月]

This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial Enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This Enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]

D2HGDH 基因产物(3)

mRNA	Protein	Name
NM_001287249.2	NP_001274178.1	D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2
NM_001352824.2	NP_001339753.1	D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 3
NM_152783.5	NP_689996.4	D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor

D2HGDH 蛋白结构

FAD_binding_4

FAD-oxidase_C

0
100
200
300
400
521 a.a.

蛋白主名

其他名称

D-2-hydroxyglutarate dehydrogenase, mitochondrial

关联疾病

疾病名称

别名

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

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 2

D2HGA2

D-2-Hydroxyglutaric Aciduria, Type 2

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia	L2HGA
L-2-Hga	Aciduria, L-2-Hydroxyglutaric
Combined D-2- And L-2-Hydroxyglutaric Aciduria

Gaucher Disease, Type Ii

GD2	Gd Ii
Gaucher Disease, Acute Neuronopathic Type	Gaucher Disease Type 2
Gaucher Disease Type Ii	Gaucher'S Disease Type Ii
Infantile Cerebral Gaucher Disease	Acute Neuronopathic Gaucher Disease
Gd 2	Gaucher Disease, Infantile Cerebral
Gaucher Disease 2	Type 2 Gaucher Disease
Gaucher Disease, Type 2

Fumarase Deficiency

Fumaric Aciduria	FMRD
Fumarate Hydratase Deficiency	Deficiency, Fumarase

Hypotonia

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

Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome	2q37 Microdeletion Syndrome
Brachydactyly-Intellectual Disability Syndrome	Deletion 2q37
2q37 Deletion Syndrome	Brachydactyly-Mental Retardation Syndrome
Bdmr	Albright Hereditary Osteodystrophy Type 3
Del(2)(Q37)	Monosomy 2q37qter
Albright'S Hereditary Osteodystrophy-Like Syndrome	Monosomy 2q37
Chromosome Deletion Syndrome 2q37

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome	Chondrodysplasia With Hemangioma
Chondroplasia Angiomatosis	Enchondromatosis With Hemangiomata
Hemangiomatosis Chondrodystrophica	Kast Syndrome
Multiple Angiomas And Endochondromas	Dyschondrodysplasia With Hemangiomas
Enchondromatosis Type Ii	Enchondromatosis With Multiple Cavernous Hemangiomas
Dyschondroplasia And Cavernous Hemangioma	Hemangiomata With Dyschondroplasia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03507	D2HGDH Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	D2HGDH	VGNC	VGNC:27861
Mus musculus	D2HGDH	MGD	MGI:2138209
Canis familiaris	D2HGDH	VGNC	VGNC:39755
Rattus norvegicus	D2HGDH	RGD	RGD:1307976
Felis catus	D2HGDH	VGNC	VGNC:61325
Macaca mulatta	D2HGDH	VGNC	VGNC:71773

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

D2HGDH - D-2-hydroxyglutarate dehydrogenase Gene

关于 D2HGDH

功能概要

D2HGDH 基因产物(3)

D2HGDH 蛋白结构

关联疾病

直系同源

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D2HGDH - D-2-hydroxyglutarate dehydrogenase Gene

关于 D2HGDH

功能概要

D2HGDH 基因产物(3)

D2HGDH 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z