1. Gene
  2. NDUFS6 - NADH:ubiquinone oxidoreductase subunit S6 Gene

NDUFS6 - NADH:ubiquinone oxidoreductase subunit S6 Gene

中文名称:NADH:泛醌氧化还原酶亚基 S6

种属: Homo sapiens

同用名: MC1DN9; CI-13kA; CI13KDA; CI-13kD-A

基因 ID: 4726 | 基因类型: protein coding

关于 NDUFS6

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,801,407-1,816,048 (from NCBI)

This gene has 3 transcripts (splice variants), 210 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 56.7), kidney (RPKM 56.2) and 25 other tissues.

功能概要

该基因编码 NADH 的一个亚基:泛醌氧化还原酶 (复合物 I) ,它是线粒体电子传递链中的第一个酶复合物。这种复合物在电子从 NADH 到呼吸链的转移中发挥作用。由该基因编码的亚基是铁硫蛋白部分中的七个亚基之一。该基因的突变导致线粒体复合物 I 缺陷,这种疾病会导致多种临床疾病,包括新生儿疾病和成人发病的神经退行性疾病。[RefSeq 提供,2009 年 10 月]

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first Enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

NDUFS6 基因产物(1)

mRNA Protein Name
NM_004553.6 NP_004544.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor
基因本体论
  • 细胞组分
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
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

NDUFS6 蛋白结构

zf-CHCC

zf-CHCC: Zinc-finger domain (82 - 120)

  • 0
  • 100
  • 124 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)

NDUFS6 抗体

目录号 产品名 应用 反应物种
HY-P81602 NDUFS6 Antibody (YA1347) WB, IP Human, Mouse, Rat, Hamster

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 9

MC1DN9

Mitochondrial Complex 1 Deficiency, Nuclear Type 9

Nuclear Type Mitochondrial Complex I Deficiency 9

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

Intellectual Developmental Disorder, Autosomal Dominant 48

Mental Retardation, Autosomal Dominant 48

MRD48

Autosomal Dominant Mental Retardation 48

Autosomal Dominant Intellectual Developmental Disorder 48

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

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome

22q11.2 Microduplication Syndrome

22q11.2 Duplication Syndrome

Duplication 22q11.2

Trisomy 22q11.2

22q11.2 Duplication

Dup(22)(Q11)

Leukodystrophy

Leukodystrophies

Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Myopathy

Muscular Diseases

Myopathies

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

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus NDUFS6 VGNC VGNC:31971
Canis familiaris NDUFS6 VGNC VGNC:43709
Mus musculus NDUFS6 MGD MGI:107932
Macaca mulatta NDUFS6 VGNC VGNC:75298
Rattus norvegicus NDUFS6 RGD RGD:3156