2. Gene
  3. NDUFA8 - NADH:ubiquinone oxidoreductase subunit A8 Gene

NDUFA8 - NADH:ubiquinone oxidoreductase subunit A8 Gene

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

中文名称：NADH：泛醌氧化还原酶亚基 A8

种属: Homo sapiens

同用名: PGIV; CI-19KD; CI-PGIV; MC1DN37

基因 ID: 4702 | 基因类型: protein coding

关于 NDUFA8

Cytogenetic location: 9q33.2 Genomic coordinates (GRCh38): 9:122,132,466-122,159,779 (from NCBI)

This gene has 1 transcript (splice variant), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 64.4), testis (RPKM 25.8) and 24 other tissues.

功能概要

该基因编码的蛋白质属于复杂的 I 19 kDa 亚基家族。哺乳动物复合体 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。它在将电子从 NADH 转移到呼吸链中起着重要作用。该酶的直接电子受体被认为是泛醌。该基因的可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

NDUFA8 基因产物(2)

mRNA Protein Name
NM_001318195.2 NP_001305124.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 2
NM_014222.3 NP_055037.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 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 protein binding IPI
IPI: 通过物理相互作用推断
21310150 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
23209302 GOA
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 intermembrane space IDA
IDA: 通过直接分析推断
21310150 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
23676665 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

NDUFA8 蛋白结构

CHCH

CHCH: CHCH domain (78 - 112)

  • 0
  • 100
  • 172 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 37

MC1DN37

Mitochondrial Complex 1 Deficiency, Nuclear Type 37
Mitochondrial Dna Depletion Syndrome 9

MTDPS9

Fatal Infantile Lactic Acidosis

Lactic Acidosis, Fatal Infantile, Formerly

Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Type 9

Lactic Acidosis, Fatal Infantile
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
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
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
Myopathy

Muscular Diseases

Myopathies
Leukodystrophy

Leukodystrophies
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09134 NDUFA8 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20182 Ndufa8 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26686 Ndufa8 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris NDUFA8 VGNC VGNC:43690
Bos taurus NDUFA8 VGNC VGNC:31951
Felis catus NDUFA8 VGNC VGNC:68439
Rattus norvegicus NDUFA8 RGD RGD:1306283
Mus musculus NDUFA8 MGD MGI:1915625
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