NDUFAF6 - NADH:ubiquinone oxidoreductase complex assembly factor 6 Gene

Homo sapiens

Also known as FRTS5; C8orf38; MC1DN17

Gene ID: 137682 | Gene type: protein coding

About NDUFAF6

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:94,895,799-95,118,496 (from NCBI)

This gene has 33 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 1.4), testis (RPKM 1.4) and 25 other tissues.

Summary

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

NDUFAF6 Products(20)

mRNA	Protein	Name
NM_001330582.2	NP_001317511.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2
NM_001354514.2	NP_001341443.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2
NM_001354515.2	NP_001341444.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2
NM_001354516.2	NP_001341445.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 3
NM_001354517.2	NP_001341446.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4
NM_001354518.2	NP_001341447.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4
NM_001354519.2	NP_001341448.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4
NM_001354521.2	NP_001341450.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 5
NM_001354522.2	NP_001341451.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354524.2	NP_001341453.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354525.2	NP_001341454.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354527.2	NP_001341456.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354528.2	NP_001341457.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354529.2	NP_001341458.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354530.2	NP_001341459.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354531.2	NP_001341460.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354532.2	NP_001341461.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354533.2	NP_001341462.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354534.2	NP_001341463.1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 7
NM_152416.4	NP_689629.2	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	22019594	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22019594	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	22019594	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22019594	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

NDUFAF6 Protein Structure

SQS_PSY

0
100
200
300
333 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

UPF0551 protein C8orf38, mitochondrial

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 17

MC1DN17	Mitochondrial Complex 1 Deficiency, Nuclear Type 17
Nuclear Type Mitochondrial Complex I Deficiency 17

Fanconi Renotubular Syndrome 5

FRTS5	Fanconi Renotubular Syndrome, Acadian Variant
Acadian-Variant Fanconi Syndrome

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

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

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Aminoaciduria

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

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Leukodystrophy

Leukodystrophies

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency	Mitochondrial Complex Iv Deficiency
Cox Deficiency	Cytochrome-C Oxidase Deficiency Disease
MC1DN4	Cytochrome-C Oxidase Deficiency
MC4DN1	Mitochondrial Complex I Deficiency, Nuclear Type 4
Complex 4 Mitochondrial Respiratory Chain Deficiency	Complex Iv Deficiency
Mitochondrial Complex 1 Deficiency, Nuclear Type 4	Nuclear Type Mitochondrial Complex I Deficiency 4
Deficiency Of Mitochondrial Respiratory Chain Complex4	MT-C4D
Complex Iv Mitochondrial Respiratory Chain Deficiency	Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

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

Spastic Ataxia

Spax	Ataxia, Spastic

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-RS09142	NDUFAF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NDUFAF6	VGNC	VGNC:75034
Bos taurus	NDUFAF6	VGNC	VGNC:31958
Rattus norvegicus	NDUFAF6	RGD	RGD:1309085
Mus musculus	NDUFAF6	MGD	MGI:1924197
Felis catus	NDUFAF6	VGNC	VGNC:63759
Canis familiaris	NDUFAF6	VGNC	VGNC:43696

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