NDUFAF4 - NADH:ubiquinone oxidoreductase complex assembly factor 4 Gene

Homo sapiens

Also known as My013; C6orf66; HRPAP20; HSPC125; MC1DN15; bA22L21.1

Gene ID: 29078 | Gene type: protein coding

About NDUFAF4

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:96,889,315-96,897,891 (from NCBI)

This gene has 3 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 11.9), brain (RPKM 11.8) and 25 other tissues.

Summary

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

NDUFAF4 Products(1)

mRNA	Protein	Name
NM_014165.4	NP_054884.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19463981	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in defense response to virus	IMP IMP: Inferred from mutant phenotype	33635491	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	18179882	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	19463981	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	18179882	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

NDUFAF4 Protein Structure

UPF0240

0
100
175 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 15

MC1DN15	Mitochondrial Complex 1 Deficiency, Nuclear Type 15
Nuclear Type Mitochondrial Complex I Deficiency 15

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

Stomatitis

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

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k	CMT4K
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k	Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k
Surf1-Related Charcot-Marie-Tooth Disease Type 4	Surf1-Related Cmt4
Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k	Charcot-Marie-Tooth Disease 4k
Charcot-Marie-Tooth Disease, Demyelinating, Type 4k	Charcot-Marie-Tooth Neuropathy, Type 4k

Leukodystrophy

Leukodystrophies

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency	Fatal Infantile Cox Deficiency
Fatal Infantile Cytochrome C Oxidase Deficiency	Fatal Infantile Encephalocardiomyopathy

Myopathy

Muscular Diseases

Myopathies

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09140	NDUFAF4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NDUFAF4	VGNC	VGNC:102475
Mus musculus	NDUFAF4	MGD	MGI:1915743
Macaca mulatta	NDUFAF4	VGNC	VGNC:74997
Bos taurus	NDUFAF4	VGNC	VGNC:31956
Rattus norvegicus	NDUFAF4	RGD	RGD:735162
Canis familiaris	NDUFAF4	VGNC	VGNC:43694

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