NDUFAF3 - NADH:ubiquinone oxidoreductase complex assembly factor 3 Gene

Homo sapiens

Also known as 2P1; E3-3; C3orf60; MC1DN18

Gene ID: 25915 | Gene type: protein coding

About NDUFAF3

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,020,452-49,023,495 (from NCBI)

This gene has 6 transcripts (splice variants), 191 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 52.4), fat (RPKM 20.6) and 24 other tissues.

Summary

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the Oxidative Phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

NDUFAF3 Products(4)

mRNA	Protein	Name
NM_199069.2	NP_951032.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a precursor
NM_199070.2	NP_951033.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b
NM_199073.2	NP_951047.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b
NM_199074.2	NP_951056.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

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 mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	19463981	GOA

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

NDUFAF3 Protein Structure

DUF498

0
100
184 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 18

MC1DN18	Mitochondrial Complex 1 Deficiency, Nuclear Type 18
Nuclear Type Mitochondrial Complex I Deficiency 18

Leigh Syndrome With Cardiomyopathy

Cardiomyopathy With Hypotonia Due To Cytochrome C Oxidase Deficiency	Cardiomyopathy With Myopathy Due To Cox Deficiency
Leigh Disease With Myopathy

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

Premature Ovarian Failure 18

POF18	Primary Ovarian Insufficiency 18
Ovarian Failure, Premature, Type 18

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

Cardiomyopathy, Familial Hypertrophic, 16

Hypertrophic Cardiomyopathy 16	CMH16
Cardiomyopathy, Hypertrophic, 16	Cardiomyopathy Familial Hypertrophic 16
Cardiomyopathy, Familial Hypertrophic 16	Cardiomyopathy, Hypertrophic, Familial, Type 16

Cardiomyopathy, Familial Hypertrophic, 18

Hypertrophic Cardiomyopathy 18	CMH18
Cardiomyopathy, Hypertrophic, 18	Cardiomyopathy Familial Hypertrophic 18
Cardiomyopathy, Familial Hypertrophic 18	Cardiomyopathy, Hypertrophic, Familial, Type 18

Cardiomyopathy, Familial Hypertrophic, 17

Hypertrophic Cardiomyopathy 17	CMH17
Cardiomyopathy, Hypertrophic, 17	Cardiomyopathy Familial Hypertrophic 17
Cardiomyopathy, Familial Hypertrophic 17	Cardiomyopathy, Hypertrophic, Familial, Type 17

Retinitis Pigmentosa 25

RP25	Retinitis Pigmentosa-25
Retinitis Pigmentosa, Type 25

Myopathy With Extrapyramidal Signs

Proximal Myopathy With Extrapyramidal Signs	MPXPS
Myopathy, With Extrapyramidal Signs

Lynch Syndrome I

Lynch Syndrome 1	Colorectal Cancer, Hereditary Nonpolyposis, Type 1
HNPCC1	Fcc1
Lynch Syndrome Ii	Colon Cancer, Familial Nonpolyposis, Type 1
Coca1	Familial Nonpolyposis Colon Cancer Type 1
Hereditary Nonpolyposis Colorectal Cancer Type 1	Hereditary Non-Polyposis Colorectal Cancer 1
Hereditary Non-Polyposis Colorectal Cancer 3	Hnpcc3
Lynch Cancer Family Syndrome	Lynch Syndrome
Lynch Syndrome Type I	Lynch Syndrome Type Ii
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1	Hereditary Nonpolyposis Colorectal Cancer
Colorectal Cancer, Hereditary Nonpolyposis, Type 3	Hereditary Non-Polyposis Colon Cancer Type 2

Primary Progressive Multiple Sclerosis

Ppms	Primary-Progressive Ms
Multiple Sclerosis, Primary Progressive

Leukodystrophy

Leukodystrophies

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency	Congenital Myasthenic Syndrome 5
CMS5	Ead
Engel Congenital Myasthenic Syndrome	Myasthenic Syndrome, Congenital, Engel Type
Cms Ic	Congenital Myasthenic Syndrome Type Ic
Congenital Myasthenic Syndrome Type Ic, Formerly	Cms1c, Formerly
Cms Ic, Formerly	Congenital Myasthenic Syndrome Engel Type
End Plate Acetylcholinesterase Deficiency	Synaptic Congenital Myasthenic Syndromes
Cms1c	Cmse
Congenital Myasthenic Syndrome Type 1c	End-Plate Acetylcholinesterase Deficiency
Myasthenic Syndrome, Congenital, Type 5

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries	DTGA1
Dextro-Looped Transposition Of The Great Arteries	DTGA
Congenitally Uncorrected Transposition Of The Great Arteries	Congenitally Uncorrected Transposition Of The Great Vessels
D-Tga	Isolated Ventriculoarterial Discordance
Ventriculoarterial Discordance With Atrioventricular Concordance	Dextro-Transposition Of The Great Arteries
Transposition Of The Great Vessels	Great Vessels Transposition
Transposition Of The Great Arteries, Dextro-Looped 1	Arteries, Great, Transposition, Dextro-Looped
Ventriculoarterial Discordance, Isolated	D-Transposition Of The Great Arteries
Complete Transposition	Tga
Tgv	Transposition Of Great Vessels
Transposition Of The Great Arteries Dextro-Looped 1	Dextro-Looped Transposition Of The Great Arteries 1
Discordant Ventriculoarterial Connection	Complete Transposition Of Great Vessels
Great Vessels Complete Transposition	Total Great Vessel Transposition
Transposition Of Great Arteries	Complete Tga - [Transposition Of The Great Arteries]
Tga - [Transposition Of Great Arteries]	Tgv - [Transposition Of Great Vessels]
Transposition Of Great Vessels Nos	Transposed Vessels Nos

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

Myopathy

Muscular Diseases

Myopathies

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-RS09139	NDUFAF3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NDUFAF3	VGNC	VGNC:43693
Felis catus	NDUFAF3	VGNC	VGNC:63757
Mus musculus	NDUFAF3	MGD	MGI:1913956
Rattus norvegicus	NDUFAF3	RGD	RGD:708545
Macaca mulatta	NDUFAF3	VGNC	VGNC:75055
Bos taurus	NDUFAF3	VGNC	VGNC:31955

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