NDUFA4 - NDUFA4 mitochondrial complex associated Gene

Homo sapiens

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

Gene ID: 4697 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09129	NDUFA4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09130	NDUFA4L2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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