NDUFA4 - NDUFA4 mitochondrial complex associated Gene

Also Known as MLRQ; CI-9k; COXFA4; MISTR1; MRCAF1; CI-MLRQ; MC4DN21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4697

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_002489.4 NP_002480.1 cytochrome c oxidase subunit NDUFA4

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19822128 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
23209302 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
30030519 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
16729965 GOA
part of respiratory chain complex IV IDA
IDA: Inferred from direct assay
22902835 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

NDUFA4 Protein Structure

B12D

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

  • 0
  • 81 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase subunit NDUFA4

  • Complex I 9kDa subunit

Related Diseases

Diseases Alias
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
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 (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09130 NDUFA4L2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS09129 NDUFA4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19794 Ndufa4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26290 Ndufa4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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