2. Gene
  3. NDUFA4 - NDUFA4 mitochondrial complex associated Gene

NDUFA4 - NDUFA4 mitochondrial complex associated Gene

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

中文名称：NDUFA4 线粒体复合物相关

种属: Homo sapiens

同用名: MLRQ; CI-9k; COXFA4; MISTR1; MRCAF1; CI-MLRQ; MC4DN21

基因 ID: 4697 | 基因类型: protein coding

关于 NDUFA4

Cytogenetic location: 7p21.3 Genomic coordinates (GRCh38): 7:10,931,943-10,940,153 (from NCBI)

This gene has 6 transcripts (splice variants), 316 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 150.5), brain (RPKM 62.0) and 24 other tissues.

功能概要

该基因编码的蛋白质属于复杂的 I 9kDa 亚基家族。哺乳动物线粒体呼吸链复合体 I 由 45 个不同的亚基组成。该蛋白具有 NADH 脱氢酶活性和氧化还原酶活性。它将电子从 NADH 转移到呼吸链。该酶的直接电子受体被认为是泛醌。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

NDUFA4 基因产物(1)

mRNA Protein Name
NM_002489.4 NP_002480.1 cytochrome c oxidase subunit NDUFA4
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19822128 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
23209302 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
30030519 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
16729965 GOA
part of respiratory chain complex IV IDA
IDA: 通过直接分析推断
22902835 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

NDUFA4 蛋白结构

B12D

B12D: NADH-ubiquinone reductase complex 1 MLRQ subunit (10 - 81)

  • 0
  • 81 a.a.
蛋白主名 其他名称

cytochrome c oxidase subunit NDUFA4

Complex I 9kDa subunit

NDUFA4 抗体

目录号 产品名 应用 反应物种
HY-P89831 NDUFA4 Antibody (YA9175) WB, IP, ELISA human

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 21

MC4DN21

Mitochondrial Complex 4 Deficiency, Nuclear Type 21
Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
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
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09130 NDUFA4L2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS09129 NDUFA4 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19794 Ndufa4 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26290 Ndufa4 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NDUFA4 RGD RGD:1584719
Bos taurus NDUFA4 VGNC VGNC:31947
Macaca mulatta NDUFA4 VGNC VGNC:108424
Mus musculus NDUFA4 MGD MGI:107686
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