NDUFAF6 - NADH:ubiquinone oxidoreductase complex assembly factor 6 Gene

Also Known as FRTS5; C8orf38; MC1DN17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 137682

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

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

Cellular Component GO Annotation	Evidence	References	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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS29445	Ndufaf6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09142	NDUFAF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NDUFAF6	NCBI