1. Gene
  2. NDUFA2 - NADH:ubiquinone oxidoreductase subunit A2 Gene

NDUFA2 - NADH:ubiquinone oxidoreductase subunit A2 Gene

中文名称:NADH:泛醌氧化还原酶亚基 A2

种属: Homo sapiens

同用名: B8; CD14; CIB8; MC1DN13

基因 ID: 4695 | 基因类型: protein coding

关于 NDUFA2

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:140,645,285-140,647,630 (from NCBI)

This gene has 4 transcripts (splice variants), 233 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 47.3), fat (RPKM 36.0) and 25 other tissues.

功能概要

编码的蛋白质是 NADH 的疏水蛋白部分的亚基:泛醌氧化还原酶 (复合物 1) ,位于线粒体内膜的电子传递链中的第一个酶复合物,可能参与调节复合物 I 的活性或其组装通过协助氧化还原过程。该基因的突变与 Leigh 综合征有关,Leigh 综合征是一种早发性进行性神经退行性疾病。可变剪接导致多个转录变体。[RefSeq 提供,2010 年 5 月]

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first Enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

NDUFA2 基因产物(2)

mRNA Protein Name
NM_001185012.2 NP_001171941.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 2
NM_002488.5 NP_002479.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
27626371 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 mitochondrial membrane IDA
IDA: 通过直接分析推断
17209039 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

NDUFA2 蛋白结构

L51_S25_CI-B8

L51_S25_CI-B8: Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain (33 - 83)

  • 0
  • 99 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 13

MC1DN13

Mitochondrial Complex 1 Deficiency, Nuclear Type 13

Nuclear Type Mitochondrial Complex I Deficiency 13

Leukoencephalopathy, Cystic, Without Megalencephaly

Cystic Leukoencephalopathy Without Megalencephaly

Rnaset2-Deficient Cystic Leukoencephalopathy

Rnase T2-Deficient Leukoencephalopathy

Clwm

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts

Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy

Lbatc

LCWM

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Combined Oxidative Phosphorylation Deficiency 10

COXPD10

Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency

Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis

Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis

Combined Oxidative Phosphorylation Defect Type 10

Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 10

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

Tomato Allergy

Solanum Lycopersicum Fruit Allergy

Leukodystrophy

Leukodystrophies

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NDUFA2 RGD RGD:1309997
Felis catus NDUFA2 VGNC VGNC:68437
Macaca mulatta NDUFA2 VGNC VGNC:110449
Mus musculus NDUFA2 MGD MGI:1343103
Canis familiaris NDUFA2 VGNC VGNC:43687
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