NDUFA8 - NADH:ubiquinone oxidoreductase subunit A8 Gene

Also Known as PGIV; CI-19KD; CI-PGIV; MC1DN37

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 4702

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
21310150 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
23209302 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: Inferred from mutant phenotype
27626371 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
located in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
21310150 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
23676665 GOA
part of respiratory chain complex I IDA
IDA: Inferred from direct assay
12611891 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDUFA8 Protein Structure

CHCH

CHCH: CHCH domain (78 - 112)

  • 0
  • 100
  • 172 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8

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

関連疾患

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS09134 NDUFA8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20182 Ndufa8 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26686 Ndufa8 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others NDUFA8 NCBI