NDUFS7 - NADH:ubiquinone oxidoreductase core subunit S7 Gene

中文名称：NADH：泛醌氧化还原酶核心亚基 S7

种属: Homo sapiens

同用名: PSST; CI-20; MY017; MC1DN3; CI-20KD

基因 ID: 374291 | 基因类型: protein coding

关于 NDUFS7

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,383,907-1,395,584 (from NCBI)

This gene has 18 transcripts (splice variants), 193 orthologues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 13.3), duodenum (RPKM 11.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是形成线粒体呼吸链的复合物之一的亚基。这种蛋白质是复合物 I 中发现的 40 多个亚基之一，即烟酰胺腺嘌呤二核苷酸 (NADH) ：泛醌氧化还原酶。这种复合物的功能是将电子从 NADH 转移到呼吸链，泛醌被认为是该酶的直接电子受体。由于线粒体复合物 I 缺乏，该基因的突变会导致 Leigh 综合征，这是一种严重的神经系统疾病，会导致皮质下大脑区域出现双侧对称性坏死性病变。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

NDUFS7 基因产物(2)

mRNA	Protein	Name
NM_001363602.2	NP_001350531.1	NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 2
NM_024407.5	NP_077718.3	NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1

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 NADH dehydrogenase (ubiquinone) activity	IMP IMP: 通过突变表型推断	17275378	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	15186778	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	17275378	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
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

NDUFS7 蛋白结构

Oxidored_q6

0
100
200
213 a.a.

蛋白主名

其他名称

NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)

NDUFS7 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	NDUFS7	O75251	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
种属内	NDUFS7	O75251	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
种属内	NDUFS7	O75251	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Mitochondrial Complex Iii Deficiency, Nuclear Type 1

MC1DN3	Mitochondrial Complex Iii Deficiency Nuclear Type 1
MC3DN1	Mitochondrial Complex I Deficiency, Nuclear Type 3
Mitochondrial Complex 1 Deficiency, Nuclear Type 3	Nuclear Type Mitochondrial Complex I Deficiency 3
Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome	Mitochondrial Complex Iii Deficiency, Nuclear 1
Complex 3 Mitochondrial Respiratory Chain Deficiency	Complex Iii Mitochondrial Respiratory Chain Deficiency
Mitochondrial Complex Iii Deficiency, Nuclear, Type 1 ]

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

Mitochondrial Complex I Deficiency, Nuclear Type 16

MC1DN16	Nuclear Type Mitochondrial Complex I Deficiency 16
Mitochondrial Complex 1 Deficiency, Nuclear Type 16

Premenstrual Tension

Premenstrual Syndrome	Pmt - [Premenstrual Tension]
Premenstrual Tension Nos	Syndrome Of Menstruation

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

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

Placental Site Trophoblastic Tumor

Trophoblastic Tumor Placental Site	Trophoblastic Tumor, Placental Site
Placental Site Trophoblastic Tumour	Placental-Site Gestational Trophoblastic Neoplasm
Placenta Neoplasm	Psst
Deciduoma	Placental Cancer
Primary Malignant Neoplasm Of Placenta

Bone Squamous Cell Carcinoma

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Leukodystrophy

Leukodystrophies

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

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Myopathy

Muscular Diseases

Myopathies

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome	MERRF
Fukuhara Syndrome	Myoclonic Epilepsy Associated With Ragged Red Fibers
Myoencephalopathy Ragged-Red Fiber Disease	Myoclonic Epilepsy - Ragged Red Fibers
Myoclonus Epilepsy And Ragged Red Fibers	Myoclonus With Epilepsy And With Ragged Red Fibers
Myoclonic Epilepsy With Ragged Red Fibers	Myoclonic Epilepsy With Ragged-Red Fibers
Fukuhara Disease	Myoclonus Epilepsy Associated With Ragged-Red Fibres
Myoclonus With Epilepsy With Ragged Red Fibers

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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-RS09163	NDUFS7 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	NDUFS7	VGNC	VGNC:31972
Mus musculus	NDUFS7	MGD	MGI:1922656
Felis catus	NDUFS7	VGNC	VGNC:68447
Canis familiaris	NDUFS7	VGNC	VGNC:43710
Rattus norvegicus	NDUFS7	RGD	RGD:1310013

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

NDUFS7 - NADH:ubiquinone oxidoreductase core subunit S7 Gene

关于 NDUFS7

功能概要

NDUFS7 基因产物(2)

NDUFS7 蛋白结构

NDUFS7 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

NDUFS7 - NADH:ubiquinone oxidoreductase core subunit S7 Gene

关于 NDUFS7

功能概要

NDUFS7 基因产物(2)

NDUFS7 蛋白结构

NDUFS7 蛋白互作信息

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