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This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]
NDUFS6 (NADH:Ubiquinone Oxidoreductase Subunit S6) is a Protein Coding gene. Diseases associated with NDUFS6 include Mitochondrial Complex I Deficiency, Nuclear Type 9 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include electron transfer activity and NADH dehydrogenase (ubiquinone) activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008137 | NADH dehydrogenase (ubiquinone) activity | NAS | 9647766 |
GO:0009055 | electron transfer activity | NAS | 9647766 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005747 | mitochondrial respiratory chain complex I | NAS | 9878551 |
GO:0016020 | membrane | IEA | -- |
GO:0070469 | respiratory chain | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
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2 | Pathways of neurodegeneration - multiple diseases | ||
3 | Metabolism |
.40
|
|
4 | Prion disease |
.55
|
|
5 | GABAergic synapse |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006120 | mitochondrial electron transport, NADH to ubiquinone | TAS | -- |
GO:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
QH2 |
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56275-39-9 |
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Sulfide |
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18496-25-8 |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NDUFS6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NDUFS6 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NDUFS6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ndufs6 30 17 31 |
|
OneToOne | |
Ndufs6b 17 |
|
|
|||
Rat (Rattus norvegicus) |
Mammalia | LOC679739 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NDUFS6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NDUFS6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NDUFS6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ndufs6 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7070 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ndufs6 30 31 |
|
OneToOne | |
Dr.15123 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8680 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009072 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | nduf-6 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5753 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
904123 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 1,801,428(+) |
C/T NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) |
MISSENSE | |
906499 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 1,815,962(+) |
C/T NM_004553.6(NDUFS6):c.*46C>T |
THREE_PRIME_UTR | |
906500 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 1,816,015(+) |
G/C NM_004553.6(NDUFS6):c.*99G>C |
THREE_PRIME_UTR | |
983268 | Likely Pathogenic: Mitochondrial complex 1 deficiency, nuclear type 9 | 1,814,466(+) |
G/A NM_004553.6(NDUFS6):c.309+5G>A |
INTRON | |
983422 | Uncertain Significance: Intellectual disability | 1,801,419(+) |
T/G NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg) |
INITIATIOR_CODON_VARIANT,MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3603817 | CNV | gain | 21293372 |
nsv1033147 | CNV | gain | 25217958 |
nsv1140355 | OTHER | inversion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex i deficiency, nuclear type 9 |
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mitochondrial complex i deficiency, nuclear type 1 |
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mental retardation, autosomal dominant 48 |
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leigh syndrome |
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hyperlysinemia, type i |
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