NDUFS8 - NADH:ubiquinone oxidoreductase core subunit S8 Gene

中文名称：NADH：泛醌氧化还原酶核心亚基 S8

种属: Homo sapiens

同用名: TYKY; CI-23k; CI23KD; MC1DN2

基因 ID: 4728 | 基因类型: protein coding

关于 NDUFS8

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,030,681-68,036,644 (from NCBI)

This gene has 15 transcripts (splice variants), 246 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 31.6), adrenal (RPKM 30.6) and 25 other tissues.

功能概要

该基因编码线粒体 NADH 的一个亚基：泛醌氧化还原酶或复合物 I，它是呼吸链的一种多聚体酶，负责 NADH 氧化、泛醌还原和从线粒体中释放质子。编码的蛋白质参与复合物 I 的 6 到 8 个铁硫簇中的两个的结合，因此在电子转移过程中是必需的。该基因的突变与 Leigh 综合征有关。[RefSeq 提供，2010 年 3 月]

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

NDUFS8 基因产物(1)

mRNA	Protein	Name
NM_002496.4	NP_002487.1	NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, 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
contributes to NADH dehydrogenase (ubiquinone) activity	IMP IMP: 通过突变表型推断	9837812	GOA
enables NADH dehydrogenase (ubiquinone) activity	IMP IMP: 通过突变表型推断	22499348	GOA
contributes to NADH dehydrogenase activity	IMP IMP: 通过突变表型推断	14749350	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	31536960	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrial electron transport, NADH to ubiquinone	IMP IMP: 通过突变表型推断	22499348	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: 通过突变表型推断	11112787	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial inner membrane	IDA IDA: 通过直接分析推断	28844695	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	9666055	GOA
part of respiratory chain complex I	IDA IDA: 通过直接分析推断	12611891	GOA
part of respiratory chain complex I	IMP IMP: 通过突变表型推断	11112787	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

NDUFS8 蛋白结构

Fer4_7

0
100
210 a.a.

蛋白主名

其他名称

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)

NDUFS8 抗体

目录号	产品名	应用	反应物种
HY-P81607	NDUFS8 Antibody (YA1352)	WB	Mouse, Rat

关联疾病

疾病名称

别名

Mitochondrial Complex Ii Deficiency, Nuclear Type 1

MC1DN2	MC2DN1
Succinate Coq Reductase Deficiency	Succinate Dehydrogenase Deficiency
Mitochondrial Complex I Deficiency, Nuclear Type 2	Mitochondrial Complex 1 Deficiency, Nuclear Type 2
Nuclear Type Mitochondrial Complex I Deficiency 2	Complex 2 Mitochondrial Respiratory Chain Deficiency
Complex Ii Mitochondrial Respiratory Chain Deficiency	Sdh-Defective Infantile Leukoencephalopathy

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Otosalpingitis

Eustachian Salpingitis	Eustachian Tube Salpingitis
Rhinosalpingitis	Tubotympanitis
Eustachian Tube Inflammation	Salpingitis Of Ear

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy	Foamy Myocardial Transformation Of Infancy
Infantile Histiocytoid Cardiomyopathy	Infantile Xanthomatous Cardiomyopathy
Oncocytic Cardiomyopathy	Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy, Focal Lipid	Cardiomyopathy, Oncocytic
Focal Lipid Cardiomyopathy	Infantile Cardiomyopathy With Histiocytoid Change
CMIH	Cardiomyopathy Focal Lipid
Cardiomyopathy Infantile Xanthomatous	Cardiomyopathy Oncocytic

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3	Iba57 Deficiency
Multiple Mitochondrial Dysfunctions Syndrome Type 3	Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Eustachian Tube Disease

Eustachian Tube Disorder	Auditory Tube Disorder
Disease Of Eustachian Tube	Eustachian Tube Dysfunction
Et- [Eustachian Tube Disorder]	Etd - [Eustachian Tube Dysfunction]

Leukodystrophy

Leukodystrophies

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

Myopathy

Muscular Diseases

Myopathies

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-RS09164	NDUFS8 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	NDUFS8	VGNC	VGNC:31973
Rattus norvegicus	NDUFS8	RGD	RGD:1309436
Mus musculus	NDUFS8	MGD	MGI:2385079
Felis catus	NDUFS8	VGNC	VGNC:81974
Canis familiaris	NDUFS8	VGNC	VGNC:51883
Macaca mulatta	NDUFS8	VGNC	VGNC:101367

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NDUFS8 - NADH:ubiquinone oxidoreductase core subunit S8 Gene

关于 NDUFS8

功能概要

NDUFS8 基因产物(1)

NDUFS8 蛋白结构

NDUFS8 抗体

关联疾病

直系同源

热门区域

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NDUFS8 - NADH:ubiquinone oxidoreductase core subunit S8 Gene

关于 NDUFS8

功能概要

NDUFS8 基因产物(1)

NDUFS8 蛋白结构

NDUFS8 抗体

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